RGD:405186630 Rat Genome Database

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Variant: RGD:405186630 -  Homo sapiens

RGD ID: 405186630
ClinVar ID: CV3055003
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,588,153
GRCh38 9 127,825,874
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.-23-14G>C
NM_000118.4:c.524-14G>C
NM_001114753.3:c.524-14G>C
NM_001406715.1:c.524-14G>C
More... 		04/23/2023 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003760182 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR