RGD:14739019 Rat Genome Database

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Variant: RGD:14739019 -  Homo sapiens

RGD ID: 14739019
RS ID: rs1588580932
ClinVar ID: CV651901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,586,727
GRCh38 9 127,824,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001114753.3:c.992-2A>G
LRG_589t1:c.992-2A>G
LRG_589:g.35321A>G
NG_009551.1:g.35321A>G
More... 		06/30/2021 splice acceptor variant pathogenic none provided; ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; Osler Weber Rendu syndrome type 1; Osler-Rendu-Weber disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15879500   PMID:16199547   PMID:20656886   PMID:22385575   PMID:25741868   PMID:28492532   PMID:32573726  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000821165 CLINVAR
  RCV001263085 CLINVAR
  RCV001664441 CLINVAR
dbSNP (RS) rs1588580932 CLINVAR
MedGen C0039445 CLINVAR
  C3661900 CLINVAR
  C4551861 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR