RGD:14692420 Rat Genome Database

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Variant: RGD:14692420 -  Homo sapiens

RGD ID: 14692420
RS ID: rs146190510
ClinVar ID: CV617851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,591,983
GRCh38 11 2,570,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000218.2:c.603C>T
LRG_287t1:c.603C>T
NC_000011.9:g.2591983C>T
LRG_287p1:p.Ile201=
More... 		02/11/2022 intron variant|synonymous variant likely benign|uncertain significance Cardiac rhythm disease
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_001406836
Location:EXON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:EXON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:EXON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:EXON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001246279 CLINVAR
  RCV001841917 CLINVAR
  RCV002352283 CLINVAR
dbSNP (RS) rs146190510 CLINVAR
MedGen C0003811 CLINVAR
  C0023976 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 698247007 CLINVAR
  9651007 CLINVAR