RGD:126737723 Rat Genome Database

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Variant: RGD:126737723 -  Homo sapiens

RGD ID: 126737723
RS ID: rs1490391959
ClinVar ID: CV1017443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,482,945
GRCh38 11 2,461,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t2:c.5+1G>A
NM_000218.3:c.386+16231G>A
LRG_287:g.21725G>A
NG_008935.1:g.21725G>A
More... 		11/07/2019 intron variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
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_001406836
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001328808 CLINVAR
dbSNP (RS) rs1490391959 CLINVAR
MedGen C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR