RGD:11602439 Rat Genome Database

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Variant: RGD:11602439 -  Homo sapiens

RGD ID: 11602439
RS ID: rs8234
ClinVar ID: CV320017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,870,108
GRCh38 11 2,848,878
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.*875A>G
LRG_287t2:c.*875A>G
LRG_287:g.408888A>G
NG_008935.1:g.408888A>G
More... 		05/12/2021 3 prime utr variant benign Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; Familial long QT syndrome; none provided; Prolonged QT interval in EKG and sudden death; Romano-Ward syndrome; Surdo-cardiac syndrome; Ventricular fibrillation with prolonged QT interval
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_181798
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:3UTRS;EXON

Gene Symbol:KCNQ1-AS1
Accession:NR_130721
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000291070 CLINVAR
  RCV000306710 CLINVAR
  RCV000345978 CLINVAR
  RCV000376159 CLINVAR
  RCV000403219 CLINVAR
  RCV001511445 CLINVAR
  RCV001718616 CLINVAR
dbSNP (RS) rs8234 CLINVAR
MedGen C0023976 CLINVAR
  C1141890 CLINVAR
  C1837014 CLINVAR
  C1865019 CLINVAR
  C3661900 CLINVAR
  C4551509 CLINVAR
  C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1-AS1 CLINVAR
OMIM 192500 CLINVAR
  220400 CLINVAR
  607542 CLINVAR
  607554 CLINVAR
  609621 CLINVAR
SNOMED CT 442917000 CLINVAR
  9651007 CLINVAR