RGD:8557235 Rat Genome Database

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Variant: RGD:8557235 -  Homo sapiens

RGD ID: 8557235
RS ID: rs387906290
ClinVar ID: CV18173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,604,664
GRCh38 11 2,583,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_287t1:c.922-1G>C
LRG_287:g.143444G>C
NG_008935.1:g.143444G>C
NC_000011.10:g.2583434G>C
More... 		07/30/2022 splice acceptor variant|splice-3 pathogenic|not provided 1-5 / 10 000
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_001406837
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_000218
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10477533   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003282 CLINVAR
  RCV002512697 CLINVAR
dbSNP (RS) rs387906290 CLINVAR
MedGen C0023976 CLINVAR
  C4551647 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
OMIM Allele 607542.0023 CLINVAR
SNOMED CT 9651007 CLINVAR