RGD:8613990 Rat Genome Database

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Variant: RGD:8613990 -  Homo sapiens

RGD ID: 8613990
RS ID: rs397508111
ClinVar ID: CV67715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,549,253
GRCh38 11 2,528,023
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.477+5G>A
LRG_287:g.88033G>A
NG_008935.1:g.88033G>A
NC_000011.10:g.2528023G>A
More... 		10/05/2022 intron|intron variant pathogenic|likely pathogenic|not provided AllHighlyPenetrant; Cardiac rhythm disease; Familial long QT syndrome; none provided; Romano-Ward 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:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1000359   PMID:9536098   PMID:10560595   PMID:10728423   PMID:10973849   PMID:15840476   PMID:16922724   PMID:17576681   PMID:19716085   PMID:21350584   PMID:22429796   PMID:22456477  
PMID:23124029   PMID:23392653   PMID:23995044   PMID:24033266   PMID:25741868   PMID:28438721   PMID:28492532   PMID:32508908   PMID:36102233   PMID:36197721  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000046061 CLINVAR
  RCV000182254 CLINVAR
  RCV000506366 CLINVAR
  RCV000826192 CLINVAR
  RCV000851189 CLINVAR
  RCV001841645 CLINVAR
  RCV002288548 CLINVAR
  RCV002336179 CLINVAR
dbSNP (RS) rs397508111 CLINVAR
MedGen C0003811 CLINVAR
  C0023976 CLINVAR
  C1141890 CLINVAR
  C3661900 CLINVAR
  C4551647 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
SNOMED CT 442917000 CLINVAR
  698247007 CLINVAR
  9651007 CLINVAR