RGD:8565746 Rat Genome Database

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Variant: RGD:8565746 -  Homo sapiens

RGD ID: 8565746
RS ID: rs1564457752
ClinVar ID: CV31710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,591,962
GRCh38 9 127,829,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000009.12:g.127829683T>C
NC_000009.11:g.130591962T>C
LRG_589t1:c.360+4A>G
LRG_589:g.30086A>G
More... 		09/24/2021 intron variant pathogenic|likely pathogenic childhood 1:10,000 none provided; ORW disease; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; Osler Weber Rendu syndrome type 1; Osler-Rendu-Weber disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ENG
Accession:NM_001278138
Location:5UTRS;INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9245986   PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532   PMID:32573726  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018151 CLINVAR
  RCV001851903 CLINVAR
  RCV004018638 CLINVAR
  RCV004700247 CLINVAR
dbSNP (RS) rs1564457752 CLINVAR
MedGen C0039445 CLINVAR
  C3661900 CLINVAR
  C4551861 CLINVAR
  CN230736 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
OMIM Allele 131195.0004 CLINVAR
SNOMED CT 21877004 CLINVAR