{ "url": "https://dantelabs.com/ko/genes/mutyh", "gene": { "slug": "mutyh", "symbol": "MUTYH", "name": "mutY DNA glycosylase", "hgnc": "HGNC:7527", "summary": null, "location": "1p34.1", "locusType": "gene with protein product", "aliases": [ "MYH" ], "previousSymbols": [], "ensemblId": "ENSG00000132781", "entrezId": 4595, "omim": [ "604933" ], "uniprot": [ "Q9UIF7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 45329242, "end": 45339970, "strand": "-", "ensemblTranscript": "ENST00000456914.7", "refseqTranscript": "NM_001048174.2", "ensemblProtein": "ENSP00000407590.2", "refseqProtein": "NP_001041639.1", "exons": [ { "start": 45329242, "end": 45329437 }, { "start": 45330516, "end": 45330557 }, { "start": 45331182, "end": 45331334 }, { "start": 45331420, "end": 45331556 }, { "start": 45331661, "end": 45331849 }, { "start": 45332023, "end": 45332086 }, { "start": 45332166, "end": 45332310 }, { "start": 45332391, "end": 45332488 }, { "start": 45332574, "end": 45332687 }, { "start": 45332763, "end": 45332834 }, { "start": 45332918, "end": 45332959 }, { "start": 45333097, "end": 45333170 }, { "start": 45333285, "end": 45333324 }, { "start": 45333413, "end": 45333561 }, { "start": 45334391, "end": 45334511 }, { "start": 45339899, "end": 45339970 } ], "cds": { "start": 45329306, "end": 45334505 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 45794835, "end": 45806142, "strand": "-" }, "neighbourhood": { "release": "116", "start": 44834606, "end": 45834605, "genes": [ { "symbol": "PTCH2", "ensemblId": "ENSG00000117425", "biotype": "protein_coding", "start": 44819154, "end": 44843253, "strand": "-", "slug": "ptch2" }, { "symbol": "EIF2B3", "ensemblId": "ENSG00000070785", "biotype": "protein_coding", "start": 44850464, "end": 44986722, "strand": "-", "slug": "eif2b3" }, { "symbol": "HECTD3", "ensemblId": "ENSG00000126107", "biotype": "protein_coding", "start": 45002540, "end": 45011369, "strand": "-", "slug": "hectd3" }, { "symbol": "UROD", "ensemblId": "ENSG00000126088", "biotype": "protein_coding", "start": 45010950, "end": 45015577, "strand": "+", "slug": "urod" }, { "symbol": "ZSWIM5", "ensemblId": "ENSG00000162415", "biotype": "protein_coding", "start": 45016395, "end": 45306209, "strand": "-", "slug": "zswim5" }, { "symbol": "HPDL", "ensemblId": "ENSG00000186603", "biotype": "protein_coding", "start": 45326895, "end": 45328710, "strand": "+", "slug": "hpdl" }, { "symbol": "", "ensemblId": "ENSG00000288208", "biotype": "protein_coding", "start": 45329262, "end": 45491155, "strand": "-" }, { "symbol": "TOE1", "ensemblId": "ENSG00000132773", "biotype": "protein_coding", "start": 45339938, "end": 45345623, "strand": "+", "slug": "toe1" }, { "symbol": "TESK2", "ensemblId": "ENSG00000070759", "biotype": "protein_coding", "start": 45343877, "end": 45491203, "strand": "-", "slug": "tesk2" }, { "symbol": "CCDC163", "ensemblId": "ENSG00000280670", "biotype": "protein_coding", "start": 45493863, "end": 45500163, "strand": "-", "slug": "ccdc163" }, { "symbol": "MMACHC", "ensemblId": "ENSG00000132763", "biotype": "protein_coding", "start": 45500186, "end": 45513382, "strand": "+", "slug": "mmachc" }, { "symbol": "PRDX1", "ensemblId": "ENSG00000117450", "biotype": "protein_coding", "start": 45510914, "end": 45542816, "strand": "-", "slug": "prdx1" }, { "symbol": "AKR1A1", "ensemblId": "ENSG00000117448", "biotype": "protein_coding", "start": 45550475, "end": 45570051, "strand": "+", "slug": "akr1a1" }, { "symbol": "NASP", "ensemblId": "ENSG00000132780", "biotype": "protein_coding", "start": 45583576, "end": 45618905, "strand": "+", "slug": "nasp" }, { "symbol": "CCDC17", "ensemblId": "ENSG00000159588", "biotype": "protein_coding", "start": 45620044, "end": 45624062, "strand": "-", "slug": "ccdc17" }, { "symbol": "GPBP1L1", "ensemblId": "ENSG00000159592", "biotype": "protein_coding", "start": 45627284, "end": 45688408, "strand": "-", "slug": "gpbp1l1" }, { "symbol": "TMEM69", "ensemblId": "ENSG00000159596", "biotype": "protein_coding", "start": 45688149, "end": 45718150, "strand": "+", "slug": "tmem69" }, { "symbol": "KLHL27", "ensemblId": "ENSG00000197429", "biotype": "protein_coding", "start": 45692370, "end": 45750805, "strand": "-", "slug": "klhl27" }, { "symbol": "MAST2", "ensemblId": "ENSG00000086015", "biotype": "protein_coding", "start": 45786987, "end": 46036228, "strand": "+", "slug": "mast2" } ], "truncated": false }, "reports": [ { "slug": "colorectal-cancer-polyposis", "name": "대장암 및 용종증", "diseases": [ { "mondoId": "MONDO:0021057", "name": "가족성 선종성 용종증(고전형 또는 감약형)", "genes": 6, "inheritance": "autosomal-dominant", "description": "치료하지 않으면 대장암이 거의 확실하게 발생하는 수백에서 수천 개의 대장 선종이 생기는 질환입니다. APC 관련 가족성 선종성 용종증과 MUTYH, NTHL1, MSH3 관련 용종증을 포함합니다.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/colorectal-cancer-polyposis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormal-circulating-creatine-concentration", "name": "Abnormality of creatine metabolism", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-concentration" }, { "slug": "adenocarcinoma-of-the-colon", "name": "Adenocarcinoma of the colon", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adenocarcinoma-of-the-colon" }, { "slug": "adenomatous-colonic-polyposis", "name": "Adenomatous colonic polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adenomatous-colonic-polyposis" }, { "slug": "amaurosis-fugax", "name": "Amaurosis fugax", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amaurosis-fugax" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "basal-cell-carcinoma", "name": "Basal cell carcinoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/basal-cell-carcinoma" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "benign-neoplasm-of-the-central-nervous-system", "name": "Benign neoplasm of the central nervous system", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/benign-neoplasm-of-the-central-nervous-system" }, { "slug": "neoplasm-of-the-breast", "name": "Breast tumor", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "url": "https://dantelabs.com/traits/neoplasm-of-the-breast" }, { "slug": "neuroblastoma", "name": "Cancer of early nerve cells", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neuroblastoma" }, { "slug": "neoplasm-of-the-pancreas", "name": "Cancer of the pancreas", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "cardiac-diverticulum", "name": "Cardiac diverticulum", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiac-diverticulum" }, { "slug": "colon-cancer", "name": "Colon cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/colon-cancer" }, { "slug": "neoplasm-of-the-colon", "name": "Colon tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-colon" }, { "slug": "colorectal-polyposis", "name": "Colorectal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/colorectal-polyposis" }, { "slug": "congenital-hypertrophy-of-retinal-pigment-epithelium", "name": "Congenital hypertrophy of retinal pigment epithelium", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/congenital-hypertrophy-of-retinal-pigment-epithelium" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "disturbed-sensory-perception", "name": "Disturbed sensory perception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/disturbed-sensory-perception" }, { "slug": "dysgraphia", "name": "Dysgraphia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysgraphia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "gastrointestinal-desmoid-tumor", "name": "Gastrointestinal desmoid tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/gastrointestinal-desmoid-tumor" }, { "slug": "glioblastoma-multiforme", "name": "Glioblastoma multiforme", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glioblastoma-multiforme" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "hepatocellular-carcinoma", "name": "Hepatocellular carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatocellular-carcinoma" }, { "slug": "increased-level-of-l-fucose-in-urine", "name": "Increased level of L-fucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/increased-level-of-l-fucose-in-urine" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "renal-neoplasm", "name": "Kidney cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/renal-neoplasm" }, { "slug": "large-intestinal-polyposis", "name": "Large intestinal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/large-intestinal-polyposis" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "neoplasm-of-the-thyroid-gland", "name": "Neoplasm of the thyroid gland", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-thyroid-gland" }, { "slug": "pituitary-adenoma", "name": "Noncancerous tumor in pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pituitary-adenoma" }, { "slug": "ovarian-neoplasm", "name": "Ovarian cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/ovarian-neoplasm" }, { "slug": "pancreatic-adenocarcinoma", "name": "Pancreatic adenocarcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-adenocarcinoma" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "visual-field-defect", "name": "Partial loss of field of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-field-defect" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "rectal-polyposis", "name": "Rectal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rectal-polyposis" }, { "slug": "neoplasm-of-the-rectum", "name": "Rectal tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neoplasm-of-the-rectum" }, { "slug": "increased-intracranial-pressure", "name": "Rise in pressure inside skull", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-intracranial-pressure" }, { "slug": "neoplasm-of-the-skeletal-system", "name": "Skeletal tumor", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-skeletal-system" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "stomach-cancer", "name": "Stomach cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/stomach-cancer" }, { "slug": "urinary-tract-neoplasm", "name": "Urinary tract neoplasm", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-tract-neoplasm" }, { "slug": "uterine-neoplasm", "name": "Uterine cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/uterine-neoplasm" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "apc", "symbol": "APC", "name": "APC regulator of Wnt signaling pathway", "shared": 1, "url": "https://dantelabs.com/ko/genes/apc" }, { "slug": "msh3", "symbol": "MSH3", "name": "mutS homolog 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/msh3" }, { "slug": "nthl1", "symbol": "NTHL1", "name": "nth like DNA glycosylase 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/nthl1" }, { "slug": "pold1", "symbol": "POLD1", "name": "DNA polymerase delta 1, catalytic subunit", "shared": 1, "url": "https://dantelabs.com/ko/genes/pold1" }, { "slug": "pole", "symbol": "POLE", "name": "DNA polymerase epsilon, catalytic subunit", "shared": 1, "url": "https://dantelabs.com/ko/genes/pole" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 131, "url": "https://dantelabs.com/genes/mutyh/variants", "items": [ { "slug": "a17pfs46", "name": "A17Pfs*46", "commonName": null, "symbol": "MUTYH", "classification": 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