RGD:127251773 Rat Genome Database

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Variant: RGD:127251773 -  Homo sapiens

RGD ID: 127251773
RS ID: rs1362579633
ClinVar ID: CV1075967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,578,341
GRCh38 9 127,816,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278138.2:c.1196-9C>T
NM_001114753.3:c.1742-9C>T
LRG_589:g.43707C>T
NG_023245.1:g.18188G>A
More... 		03/22/2020 intron variant likely benign 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_001278138
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001417875 CLINVAR
dbSNP (RS) rs1362579633 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR