RGD:405175754 Rat Genome Database

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Variant: RGD:405175754 -  Homo sapiens

RGD ID: 405175754
ClinVar ID: CV3005539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,588,102
GRCh38 9 127,825,823
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_589t1:c.561C>A
LRG_589t2:c.561C>A
NM_001278138.2:c.15C>A
NM_000118.4:c.561C>A
More... 		07/07/2023 missense 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003758556 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR