RGD:156293705 Rat Genome Database

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Variant: RGD:156293705 -  Homo sapiens

RGD ID: 156293705
ClinVar ID: CV1892138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL162586.1  ENG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,581,900
GRCh38 9 127,819,621
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.1311+1G>A
NM_001278138.2:c.765+1G>A
LRG_589:g.40148G>A
NG_009551.1:g.40148G>A
More... 		09/07/2022 splice donor variant pathogenic 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_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Gene Symbol:AL162586.1
Accession:NR_136302
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:15879500   PMID:16199547   PMID:16752392   PMID:21158752   PMID:28492532   PMID:29339534  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003061568 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene AL162586.1 CLINVAR
  ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR