RGD:8613991 Rat Genome Database

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Variant: RGD:8613991 -  Homo sapiens

RGD ID: 8613991
RS ID: rs397508111
ClinVar ID: CV67716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,549,253
GRCh38 11 2,528,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.477+5G>C
LRG_287:g.88033G>C
NG_008935.1:g.88033G>C
NC_000011.10:g.2528023G>C
More... 		09/16/2015 intron|intron variant likely pathogenic|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000493008 CLINVAR
dbSNP (RS) rs397508111 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR