RGD:151834020 Rat Genome Database

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Variant: RGD:151834020 -  Homo sapiens

RGD ID: 151834020
RS ID: rs1830552318
ClinVar ID: CV1493359
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENG  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,586,728
GRCh38 9 127,824,449
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.446-3C>G
NM_001114753.3:c.992-3C>G
LRG_589:g.35320C>G
NG_009551.1:g.35320C>G
More... 		08/24/2022 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:22991266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001935346 CLINVAR
  RCV002386703 CLINVAR
dbSNP (RS) rs1830552318 CLINVAR
MedGen C0039445 CLINVAR
  CN230736 CLINVAR
NCBI Gene ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR