RGD:11616337 Rat Genome Database

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Variant: RGD:11616337 -  Homo sapiens

RGD ID: 11616337
RS ID: rs727505084
ClinVar ID: CV326191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,799,279
GRCh38 11 2,778,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.1794+12C>T
LRG_287:g.338059C>T
NG_008935.1:g.338059C>T
NC_000011.10:g.2778049C>T
More... 		06/14/2016 intron variant uncertain significance Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; Familial long QT syndrome; 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


Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_001406836
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_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278548 CLINVAR
  RCV000293701 CLINVAR
  RCV000338238 CLINVAR
  RCV000348633 CLINVAR
  RCV000390755 CLINVAR
dbSNP (RS) rs727505084 CLINVAR
MedGen C1141890 CLINVAR
  C1837014 CLINVAR
  C1865019 CLINVAR
  C4551509 CLINVAR
  C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  220400 CLINVAR
  607542 CLINVAR
  607554 CLINVAR
  609621 CLINVAR
SNOMED CT 442917000 CLINVAR