RGD:11601583 Rat Genome Database

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Variant: RGD:11601583 -  Homo sapiens

RGD ID: 11601583
RS ID: rs868129989
ClinVar ID: CV313816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1-AS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,869,625
GRCh38 11 2,848,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.*392A>C
LRG_287t2:c.*392A>C
LRG_287:g.408405A>C
NG_008935.1:g.408405A>C
More... 		01/12/2018 3 prime utr 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_001406837
Location:3UTRS;EXON

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

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

Gene Symbol:KCNQ1
Accession:NM_181798
Location:3UTRS;EXON

Gene Symbol:KCNQ1
Accession:NM_001406839
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 Information

Database Acc Id Source(s)
ClinVar RCV000283408 CLINVAR
  RCV000286912 CLINVAR
  RCV000335075 CLINVAR
  RCV000340741 CLINVAR
  RCV000378979 CLINVAR
dbSNP (RS) rs868129989 CLINVAR
MedGen C1141890 CLINVAR
  C1837014 CLINVAR
  C1865019 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