RGD:11351520 Rat Genome Database

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Variant: RGD:11351520 -  Homo sapiens

RGD ID: 11351520
RS ID: rs1554919460
ClinVar ID: CV241090
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: KCNQ1  
Reference Nucleotide: -
Variant Nucleotide: GC
Position
Assembly Chr Position
GRCh37 11 2,790,067
GRCh38 11 2,768,837
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t1:c.1515-7_1515-6insGC
LRG_287:g.328847_328848insGC
NG_008935.1:g.328847_328848insGC
NC_000011.10:g.2768837_2768838insGC
More... 		02/24/2016 intron variant uncertain significance
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_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000228383 CLINVAR
dbSNP (RS) rs1554919460 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 607542 CLINVAR
SNOMED CT 9651007 CLINVAR