RGD:11640259 Rat Genome Database

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Variant: RGD:11640259 -  Homo sapiens

RGD ID: 11640259
RS ID: rs185017345
ClinVar ID: CV268962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC3  LOC111811967  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 50,832,217
GRCh38 19 50,328,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008134.2:g.5418G>T
NC_000019.10:g.50328960C>A
NC_000019.9:g.50832217C>A
NP_004968.2:p.Gln41His
More... 		05/04/2021 5 prime utr variant|intron variant|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNC3
Accession:NM_001372305
Location:5UTRS;EXON

Gene Symbol:KCNC3
Accession:NM_004977
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQHQPAQPGPAASPAGPPAPRGPGDRRAEPCPGLPAAAMGRH
GGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEPEAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPA
DVCGPLFEEELGFWGIDETDVEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG
ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFILISITTFCLETHEGFIHISN
KTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFTFEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSG
LSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL
GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKN
KHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPITPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLP
APGEPCPLAQEEVIEINRADPRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS
IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP*

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

Variant Samples
Additional References at PubMed
PMID:25756792   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000335687 CLINVAR
  RCV000947995 CLINVAR
dbSNP (RS) rs185017345 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNC3 CLINVAR
  LOC111811967 CLINVAR
OMIM 176264 CLINVAR