RGD:13801690 Rat Genome Database

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Variant: RGD:13801690 -  Homo sapiens

RGD ID: 13801690
RS ID: rs1564455715
ClinVar ID: CV563451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,587,254
GRCh38 9 127,824,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009551.1:g.34794G>C
NC_000009.12:g.127824975C>G
NC_000009.11:g.130587254C>G
NM_001406715.1:c.817-1G>C
More... 		02/14/2019 splice acceptor variant pathogenic 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_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15879500   PMID:16199547   PMID:20824275   PMID:24001356   PMID:25970827   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694887 CLINVAR
  RCV001285575 CLINVAR
  RCV002424652 CLINVAR
dbSNP (RS) rs1564455715 CLINVAR
MedGen C0039445 CLINVAR
  C4551861 CLINVAR
  CN230736 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR