RGD:11350457 Rat Genome Database

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Variant: RGD:11350457 -  Homo sapiens

RGD ID: 11350457
RS ID: rs878854350
ClinVar ID: CV204202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,798,214
GRCh38 11 2,776,984
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.1686-2A>G
LRG_287:g.336994A>G
NG_008935.1:g.336994A>G
NC_000011.10:g.2776984A>G
More... 		08/11/2020 splice acceptor variant pathogenic|likely pathogenic 1-5 / 10 000 none provided
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_001406836
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_181798
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19862833   PMID:25741868   PMID:27041150   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000234808 CLINVAR
  RCV000456381 CLINVAR
  RCV000621754 CLINVAR
  RCV000786150 CLINVAR
dbSNP (RS) rs878854350 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
  C4551647 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
SNOMED CT 9651007 CLINVAR