RGD:8613882 Rat Genome Database

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Variant: RGD:8613882 -  Homo sapiens

RGD ID: 8613882
RS ID: rs1800171
ClinVar ID: CV67607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,604,775
GRCh38 11 2,583,545
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t2:c.651G>C
LRG_287:g.143555G>C
NG_008935.1:g.143555G>C
NC_000011.10:g.2583545G>C
More... 		07/26/2013 synonymous variant pathogenic|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000182160 CLINVAR
dbSNP (RS) rs1800171 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR