RGD:38474108 Rat Genome Database

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Variant: RGD:38474108 -  Homo sapiens

RGD ID: 38474108
RS ID: rs1830374353
ClinVar ID: CV959910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL162586.1  ENG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,580,394
GRCh38 9 127,818,115
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.1140+5G>A
LRG_589t1:c.1686+5G>A
NC_000009.11:g.130580394C>T
LRG_589:g.41654G>A
More... 		07/31/2019 intron variant likely 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_001278138
Location:INTRON

Gene Symbol:ENG
Accession:NM_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:AL162586.1
Accession:NR_136302
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:18673552   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001231934 CLINVAR
dbSNP (RS) rs1830374353 CLINVAR
MedGen C0039445 CLINVAR
NCBI Gene AL162586.1 CLINVAR
  ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR