{ "url": "https://dantelabs.com/et/genes/rfc1", "gene": { "slug": "rfc1", "symbol": "RFC1", "name": "replication factor C subunit 1", "hgnc": "HGNC:9969", "summary": null, "location": "4p14", "locusType": "gene with protein product", "aliases": [ "A1", "PO-GA", "RFC140", "MHCBFB" ], "previousSymbols": [], "ensemblId": "ENSG00000035928", "entrezId": 5981, "omim": [ "102579" ], "uniprot": [ "P35251" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 39287456, "end": 39366362, "strand": "-", "ensemblTranscript": "ENST00000349703.7", "refseqTranscript": "NM_002913.5", "ensemblProtein": "ENSP00000261424.4", "refseqProtein": "NP_002904.3", "exons": [ { "start": 39287456, "end": 39288844 }, { "start": 39289848, "end": 39290039 }, { "start": 39291639, "end": 39291852 }, { "start": 39295614, "end": 39295759 }, { "start": 39300021, "end": 39300138 }, { "start": 39300260, "end": 39300414 }, { "start": 39302278, "end": 39302376 }, { "start": 39302500, "end": 39302595 }, { "start": 39302737, "end": 39302874 }, { "start": 39303060, "end": 39303151 }, { "start": 39304814, "end": 39304928 }, { "start": 39306592, "end": 39306701 }, { "start": 39308636, "end": 39309032 }, { "start": 39311445, "end": 39311549 }, { "start": 39312752, "end": 39312931 }, { "start": 39316915, "end": 39317022 }, { "start": 39320383, "end": 39320669 }, { "start": 39321287, "end": 39321374 }, { "start": 39323340, "end": 39323417 }, { "start": 39326563, "end": 39326640 }, { "start": 39327524, "end": 39327756 }, { "start": 39342345, "end": 39342467 }, { "start": 39345401, "end": 39345476 }, { "start": 39351348, "end": 39351476 }, { "start": 39366239, "end": 39366362 } ], "cds": { "start": 39288761, "end": 39366241 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 39289076, "end": 39367995, "strand": "-" }, "neighbourhood": { "release": "116", "start": 38826909, "end": 39826908, "genes": [ { "symbol": "TLR1", "ensemblId": "ENSG00000174125", "biotype": "protein_coding", "start": 38787555, "end": 38856817, "strand": "-", "slug": "tlr1" }, { "symbol": "TLR6", "ensemblId": "ENSG00000174130", "biotype": "protein_coding", "start": 38822897, "end": 38856901, "strand": "-", "slug": "tlr6" }, { "symbol": "FAM114A1", "ensemblId": "ENSG00000197712", "biotype": "protein_coding", "start": 38867677, "end": 38945740, "strand": "+", "slug": "fam114a1" }, { "symbol": "TMEM156", "ensemblId": "ENSG00000121895", "biotype": "protein_coding", "start": 38965999, "end": 39032922, "strand": "-", "slug": "tmem156" }, { "symbol": "KLHL5", "ensemblId": "ENSG00000109790", "biotype": "protein_coding", "start": 39044613, "end": 39126857, "strand": "+", "slug": "klhl5" }, { "symbol": "WDR19", "ensemblId": "ENSG00000157796", "biotype": "protein_coding", "start": 39182463, "end": 39285810, "strand": "+", "slug": "wdr19" }, { "symbol": "KLB", "ensemblId": "ENSG00000134962", "biotype": "protein_coding", "start": 39406896, "end": 39451533, "strand": "+", "slug": "klb" }, { "symbol": "RPL9", "ensemblId": "ENSG00000163682", "biotype": "protein_coding", "start": 39450679, "end": 39472424, "strand": "-", "slug": "rpl9" }, { "symbol": "LIAS", "ensemblId": "ENSG00000121897", "biotype": "protein_coding", "start": 39459004, "end": 39485109, "strand": "+", "slug": "lias" }, { "symbol": "UGDH", "ensemblId": "ENSG00000109814", "biotype": "protein_coding", "start": 39498755, "end": 39528311, "strand": "-", "slug": "ugdh" }, { "symbol": "SMIM14", "ensemblId": "ENSG00000163683", "biotype": "protein_coding", "start": 39546336, "end": 39639092, "strand": "-", "slug": "smim14" }, { "symbol": "UBE2K", "ensemblId": "ENSG00000078140", "biotype": "protein_coding", "start": 39697879, "end": 39782792, "strand": "+", "slug": "ube2k" }, { "symbol": "PDS5A", "ensemblId": "ENSG00000121892", "biotype": "protein_coding", "start": 39822863, "end": 39977993, "strand": "-", "slug": "pds5a" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Pärilikud sensoorsed ja autonoomsed neuropaatiad (sh familiaarne düsautonoomia)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Pärilik sensoorne ja autonoomne neuropaatia", "genes": 21, "inheritance": null, "description": "Neuropaatiate rühm, sh familiaarne düsautonoomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) ja kaasasündinud valutundlikkuse puudumine (NTRK1, SCN9A, PRDM12). Enamik neist on retsessiivse pärilikkusega, HSAN1 on dominantne.", "management": "Kaitse märkamatute vigastuste, põletuste ja infektsioonide eest, autonoomsete sümptomite juhtimine ning sugulaste kandjatestimine (familiaarne düsautonoomia kuulub aškenazi juudi päritoluga inimeste kandjaskriiningusse).", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/hereditary-sensory-and-autonomic-neuropathies" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomaalselt retsessiivsed tserebellaarsed ataksiad (sh CANVAS ja AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomaalselt retsessiivne tserebellaarne ataksia", "genes": 57, "inheritance": "autosomal-recessive", "description": "Retsessiivselt pärandunud ataksiate rühm, mida põhjustavad bialleelsed variandid geenides nagu RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 ja SYNE1.", "management": "E-vitamiini puudulikkusega ataksiat (TTPA) saab ravida E-vitamiini lisanditega; teisi vorme ravitakse füsioteraapia ja sümptomite leevendamisega ning lähisugulastele saab pakkuda kandjatesti.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-rapid-eye-movement-sleep", "name": "Abnormal rapid eye movement sleep", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-rapid-eye-movement-sleep" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "axonal-loss", "name": "Axonal loss", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axonal-loss" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "decreased-distal-sensory-nerve-action-potential", "name": "Decreased distal sensory nerve action potential", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-distal-sensory-nerve-action-potential" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "downbeat-nystagmus", "name": "Downbeat nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downbeat-nystagmus" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "impaired-horizontal-smooth-pursuit", "name": "Impaired horizontal smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/impaired-horizontal-smooth-pursuit" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "multiple-joint-contractures", "name": "Multiple joint contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-joint-contractures" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "vestibular-areflexia", "name": "Vestibular areflexia", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vestibular-areflexia" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/et/genes/ahi1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/et/genes/aifm1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/et/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/et/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/et/genes/atg7" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 1, "url": "https://dantelabs.com/et/genes/atl3" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/et/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 1, "url": "https://dantelabs.com/et/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 1, "url": "https://dantelabs.com/et/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/et/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 1, "url": "https://dantelabs.com/et/genes/cep41" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }