RGD:10397703 Rat Genome Database

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Variant: RGD:10397703 -  Homo sapiens

RGD ID: 10397703
RS ID: rs796052671
ClinVar ID: CV202194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 133,492,792
GRCh38 8 132,480,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008854.2:g.5213G>C
NC_000008.11:g.132480545C>G
NC_000008.10:g.133492792C>G
NM_004519.2:c.-13G>C
More... 		07/19/2012 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:NM_004519
Location:5UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:5UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187960 CLINVAR
dbSNP (RS) rs796052671 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR