RGD:11523330 Rat Genome Database

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Variant: RGD:11523330 -  Homo sapiens

RGD ID: 11523330
RS ID: rs879253883
ClinVar ID: CV245205
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 50,826,927
GRCh38 19 50,323,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008134.2:g.10708C>T
NC_000019.10:g.50323670G>A
NC_000019.9:g.50826927G>A
NP_004968.2:p.Thr428Ile
More...
07/20/2016 intron variant|missense variant pathogenic adult <1 / 1 000 000 Cerebellar ataxia, autosomal dominant with mental retardation; Spinocerebellar Ataxia Type13
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNC3
Accession:NM_004977
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRGPGDRRAEPCPGLPAAAMGRH
GGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEPEAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPA
DVCGPLFEEELGFWGIDETDVEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG
ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFILISITTFCLETHEGFIHISN
KTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFTFEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSG
LSSKAAKDVLGFLRVVRFVRILRIFKLIRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL
GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKN
KHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPITPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLP
APGEPCPLAQEEVIEINRADPRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS
IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP*

Gene Symbol:KCNC3
Accession:NM_001372305
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEPEAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKL
HCPADVCGPLFEEELGFWGIDETDVEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLD
GAGGELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFILISITTFCLETHEGFI
HISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFTFEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEV
GLSGLSSKAAKDVLGFLRVVRFVRILRIFKLIRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADP
DDILGSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLP
KKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPITPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGL
PPLPAPGEPCPLAQEEVIEINRADPRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPS
PDGSIRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP*

Gene Symbol:KCNC3
Accession:NR_110912
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25981959  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000235759 CLINVAR
dbSNP (RS) rs879253883 CLINVAR
MedGen C1854488 CLINVAR
NCBI Gene KCNC3 CLINVAR
OMIM 176264 CLINVAR
  605259 CLINVAR
OMIM Allele 176264.0003 CLINVAR