RGD:8691735 Rat Genome Database

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Variant: RGD:8691735 -  Homo sapiens

RGD ID: 8691735
RS ID: rs184516288
ClinVar ID: CV141702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,592,653
GRCh38 11 2,571,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t2:c.302+20T>C
LRG_287t1:c.683+20T>C
LRG_287:g.131433T>C
NG_008935.1:g.131433T>C
More... 		07/04/2021 intron variant benign|likely benign AllHighlyPenetrant
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_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126431 CLINVAR
  RCV002055643 CLINVAR
dbSNP (RS) rs184516288 CLINVAR
MedGen C0023976 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 9651007 CLINVAR