RGD:13540929 Rat Genome Database

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Variant: RGD:13540929 -  Homo sapiens

RGD ID: 13540929
RS ID: rs372912362
ClinVar ID: CV503796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,799,203
GRCh38 11 2,777,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000218.2:c.1733-3T>C
LRG_287t1:c.1733-3T>C
LRG_287:g.337983T>C
NG_008935.1:g.337983T>C
More...
04/18/2020 intron variant likely benign|uncertain significance Cardiac rhythm disease; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

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_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001317641 CLINVAR
  RCV001719074 CLINVAR
  RCV001841775 CLINVAR
  RCV002404693 CLINVAR
dbSNP (RS) rs372912362 CLINVAR
MedGen C0003811 CLINVAR
  C0023976 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 698247007 CLINVAR
  9651007 CLINVAR