RGD:38481303 Rat Genome Database

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Variant: RGD:38481303 -  Homo sapiens

RGD ID: 38481303
RS ID: rs863223535
ClinVar ID: CV940128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,587,972
GRCh38 9 127,825,693
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.143+2T>A
LRG_589t1:c.689+2T>A
NM_001114753.3:c.689+2T>A
LRG_589:g.34076T>A
More... 		09/19/2019 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_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15024723   PMID:15879500   PMID:16199547   PMID:20656886   PMID:22385575   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001206775 CLINVAR
dbSNP (RS) rs863223535 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR