RGD:11605560 Rat Genome Database

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Variant: RGD:11605560 -  Homo sapiens

RGD ID: 11605560
RS ID: rs146407692
ClinVar ID: CV319986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1OT1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,632,730
GRCh38 11 2,611,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.1393+22646C>G
LRG_287:g.171510C>G
NG_008935.1:g.171510C>G
NC_000011.10:g.2611500C>G
More... 		06/14/2016 intron variant likely benign Familial long QT syndrome; Familial short QT syndrome; Jervell-Lange Nielsen syndrome; 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:KCNQ1OT1
Accession:NR_002728
Location:EXON;NON-CODING

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_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281229 CLINVAR
  RCV000321060 CLINVAR
  RCV000338590 CLINVAR
  RCV000378069 CLINVAR
  RCV000402664 CLINVAR
dbSNP (RS) rs146407692 CLINVAR
MedGen C0022387 CLINVAR
  C0023976 CLINVAR
  C1141890 CLINVAR
  C2348199 CLINVAR
  C3468561 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1OT1 CLINVAR
OMIM 192500 CLINVAR
  604115 CLINVAR
  607542 CLINVAR
SNOMED CT 373905003 CLINVAR
  442917000 CLINVAR
  9651007 CLINVAR