RGD:127251957 Rat Genome Database

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Variant: RGD:127251957 -  Homo sapiens

RGD ID: 127251957
RS ID: rs1564820836
ClinVar ID: CV1056007
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 2,593,340
GRCh38 11 2,572,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008935.1:g.132120G>A
NC_000011.10:g.2572110G>A
NC_000011.9:g.2593340G>A
NM_000218.3:c.780+1G>A
More... 		11/13/2020 intron variant|splice donor variant likely pathogenic
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_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9323054   PMID:16199547   PMID:19862833   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001378656 CLINVAR
dbSNP (RS) rs1564820836 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 9651007 CLINVAR