RGD:151730884 Rat Genome Database

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Variant: RGD:151730884 -  Homo sapiens

RGD ID: 151730884
RS ID: rs2131936480
ClinVar ID: CV1335026
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  LOC127816085  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,616,566
GRCh38 9 127,854,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_589t2:c.67+2T>C
NM_001114753.3:c.67+2T>C
LRG_589:g.5482T>C
NG_009551.1:g.5482T>C
More... 		10/27/2022 splice donor variant pathogenic|likely pathogenic none provided; ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; 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_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15879500   PMID:16199547   PMID:22991266   PMID:23535011   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001843980 CLINVAR
  RCV001869863 CLINVAR
  RCV002361083 CLINVAR
dbSNP (RS) rs2131936480 CLINVAR
MedGen C0039445 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR