RGD:152170667 Rat Genome Database

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Variant: RGD:152170667 -  Homo sapiens

RGD ID: 152170667
RS ID: rs547982653
ClinVar ID: CV1578337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  KCNQ1-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,868,977
GRCh38 11 2,847,747
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000218.3:c.1795-20G>A
LRG_287:g.407757G>A
NG_008935.1:g.407757G>A
NC_000011.10:g.2847747G>A
More... 		08/02/2021 intron variant likely benign
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_000218
Location:INTRON

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_001406839
Location:INTRON

Gene Symbol:KCNQ1-AS1
Accession:NR_130721
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002183232 CLINVAR
dbSNP (RS) rs547982653 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNQ1 CLINVAR
  KCNQ1-AS1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 9651007 CLINVAR