RGD:13435990 Rat Genome Database

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Variant: RGD:13435990 -  Homo sapiens

RGD ID: 13435990
RS ID: rs1554809228
ClinVar ID: CV433052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AL162586.1  ENG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,580,398
GRCh38 9 127,818,119
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_589:g.41650G>A
NG_009551.1:g.41650G>A
NC_000009.12:g.127818119C>T
NC_000009.11:g.130580398C>T
More... 		01/19/2020 splice donor variant pathogenic AllHighlyPenetrant; none provided; 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_001114753
Location:INTRON

Gene Symbol:ENG
Accession:NM_000118
Location:INTRON

Gene Symbol:ENG
Accession:NM_001278138
Location:INTRON

Gene Symbol:ENG
Accession:NM_001406715
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:15879500   PMID:16199547   PMID:16429404   PMID:18673552   PMID:23805858   PMID:25970827   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000506377 CLINVAR
  RCV001049940 CLINVAR
  RCV001786396 CLINVAR
  RCV002404320 CLINVAR
dbSNP (RS) rs1554809228 CLINVAR
MedGen C0039445 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene 102723566 CLINVAR
  ENG CLINVAR
OMIM 131195 CLINVAR
  187300 CLINVAR
SNOMED CT 21877004 CLINVAR