{ "url": "https://dantelabs.com/lt/genes/myl3", "gene": { "slug": "myl3", "symbol": "MYL3", "name": "myosin light chain 3", "hgnc": "HGNC:7584", "summary": null, "location": "3p21.31", "locusType": "gene with protein product", "aliases": [ "CMH8", "VLC1", "MLC1V", "MLC1SB" ], "previousSymbols": [], "ensemblId": "ENSG00000160808", "entrezId": 4634, "omim": [ "160790" ], "uniprot": [ "P08590" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 46857872, "end": 46863444, "strand": "-", "ensemblTranscript": "ENST00000292327.6", "refseqTranscript": "NM_000258.3", "ensemblProtein": "ENSP00000292327.4", "refseqProtein": "NP_000249.1", "exons": [ { "start": 46857872, "end": 46858101 }, { "start": 46858231, "end": 46858272 }, { "start": 46858384, "end": 46858461 }, { "start": 46859475, "end": 46859648 }, { "start": 46860676, "end": 46860825 }, { "start": 46860960, "end": 46860987 }, { "start": 46863262, "end": 46863444 } ], "cds": { "start": 46858244, "end": 46863390 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 46899362, "end": 46923659, "strand": "-" }, "neighbourhood": { "release": "116", "start": 46360658, "end": 47360657, "genes": [ { "symbol": "CCR2", "ensemblId": "ENSG00000121807", "biotype": "protein_coding", "start": 46353864, "end": 46360940, "strand": "+", "slug": "ccr2" }, { "symbol": "CCR5", "ensemblId": "ENSG00000160791", "biotype": "protein_coding", "start": 46370939, "end": 46377528, "strand": "+", "slug": "ccr5" }, { "symbol": "CCRL2", "ensemblId": "ENSG00000121797", "biotype": "protein_coding", "start": 46407144, "end": 46412997, "strand": "+", "slug": "ccrl2" }, { "symbol": "LTF", "ensemblId": "ENSG00000012223", "biotype": "protein_coding", "start": 46434347, "end": 46485234, "strand": "-", "slug": "ltf" }, { "symbol": "RTP3", "ensemblId": "ENSG00000163825", "biotype": "protein_coding", "start": 46494611, "end": 46501506, "strand": "+", "slug": "rtp3" }, { "symbol": "LRRC2", "ensemblId": "ENSG00000163827", "biotype": "protein_coding", "start": 46510358, "end": 46607097, "strand": "-", "slug": "lrrc2" }, { "symbol": "CRIPTO", "ensemblId": "ENSG00000241186", "biotype": "protein_coding", "start": 46573633, "end": 46584684, "strand": "+", "slug": "cripto" }, { "symbol": "", "ensemblId": "ENSG00000283877", "biotype": "protein_coding", "start": 46581150, "end": 46617226, "strand": "+" }, { "symbol": "FAM240A", "ensemblId": "ENSG00000283473", "biotype": "protein_coding", "start": 46612525, "end": 46626543, "strand": "+", "slug": "fam240a" }, { "symbol": "ALS2CL", "ensemblId": "ENSG00000178038", "biotype": "protein_coding", "start": 46668994, "end": 46694071, "strand": "-", "slug": "als2cl" }, { "symbol": "TMIE", "ensemblId": "ENSG00000181585", "biotype": "protein_coding", "start": 46694528, "end": 46710886, "strand": "+", "slug": "tmie" }, { "symbol": "", "ensemblId": "ENSG00000206549", "biotype": "protein_coding", "start": 46712115, "end": 46812574, "strand": "-" }, { "symbol": "PRSS50", "ensemblId": "ENSG00000283706", "biotype": "protein_coding", "start": 46712117, "end": 46717869, "strand": "-", "slug": "prss50" }, { "symbol": "PTH1R", "ensemblId": "ENSG00000160801", "biotype": "protein_coding", "start": 46877706, "end": 46903799, "strand": "+", "slug": "pth1r" }, { "symbol": "CCDC12", "ensemblId": "ENSG00000160799", "biotype": "protein_coding", "start": 46916634, "end": 46982010, "strand": "-", "slug": "ccdc12" }, { "symbol": "NBEAL2", "ensemblId": "ENSG00000160796", "biotype": "protein_coding", "start": 46979660, "end": 47009707, "strand": "+", "slug": "nbeal2" }, { "symbol": "SETD2", "ensemblId": "ENSG00000181555", "biotype": "protein_coding", "start": 47016428, "end": 47164148, "strand": "-", "slug": "setd2" }, { "symbol": "KIF9", "ensemblId": "ENSG00000088727", "biotype": "protein_coding", "start": 47227426, "end": 47283451, "strand": "-", "slug": "kif9" }, { "symbol": "KLHL18", "ensemblId": "ENSG00000114648", "biotype": "protein_coding", "start": 47282628, "end": 47346819, "strand": "+", "slug": "klhl18" } ], "truncated": false }, "reports": [ { "slug": "hypertrophic-cardiomyopathy", "name": "Hipertrofinė kardiomiopatija", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Hipertrofinė kardiomiopatija", "genes": 62, "inheritance": "autosomal-dominant", "description": "Būklė, kai miokardas hipertrofuojasi be akivaizdžios priežasties. Hipertrofija paprastai būna asimetriška ir gali būti susijusi su kairiojo skilvelio ištakos obstrukcija.", "management": "Beta blokatoriai, ne dihidropiridininiai kalcio kanalų blokatoriai, fizinio aktyvumo apribojimas, genetinė konsultacija", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "endocardial-fibrosis", "name": "Endocardial fibrosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/endocardial-fibrosis" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "left-atrial-enlargement", "name": "Left atrial enlargement", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/left-atrial-enlargement" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "restrictive-cardiomyopathy", "name": "Restrictive cardiomyopathy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "t-wave-inversion", "name": "T-wave inversion", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/t-wave-inversion" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-fibrillation" } ], "related": [ { "slug": "acadvl", "symbol": "ACADVL", "name": "acyl-CoA dehydrogenase very long chain", "shared": 1, "url": "https://dantelabs.com/lt/genes/acadvl" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/actc1" }, { "slug": "alpk3", "symbol": "ALPK3", "name": "alpha kinase 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/alpk3" }, { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/lt/genes/braf" }, { "slug": "cdkn1c", "symbol": "CDKN1C", "name": "cyclin dependent kinase inhibitor 1C", "shared": 1, "url": "https://dantelabs.com/lt/genes/cdkn1c" }, { "slug": "csrp3", "symbol": "CSRP3", "name": "cysteine and glycine rich protein 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/csrp3" }, { "slug": "dhh", "symbol": "DHH", "name": "desert hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/lt/genes/dhh" }, { "slug": "dhx37", "symbol": "DHX37", "name": "DEAH-box helicase 37", "shared": 1, "url": "https://dantelabs.com/lt/genes/dhx37" }, { "slug": "dmpk", "symbol": "DMPK", "name": "DM1 protein kinase", "shared": 1, "url": "https://dantelabs.com/lt/genes/dmpk" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 1, "url": "https://dantelabs.com/lt/genes/erf" }, { "slug": "etfa", "symbol": "ETFA", "name": "electron transfer flavoprotein subunit alpha", "shared": 1, "url": "https://dantelabs.com/lt/genes/etfa" }, { "slug": "etfb", "symbol": "ETFB", "name": "electron transfer flavoprotein subunit beta", "shared": 1, "url": "https://dantelabs.com/lt/genes/etfb" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 1, "url": "https://dantelabs.com/genes/myl3/variants", "items": [ { "slug": "r94h", "name": "R94H", "commonName": null, "symbol": "MYL3", "classification": "pathogenic-likely-pathogenic", "stars": 2, "hgvsC": "c.281G>A", "position": 46860702, "grch37Position": 46902192, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/myl3/variants/r94h" } ] } }