RGD:8690016 Rat Genome Database

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Variant: RGD:8690016 -  Homo sapiens

RGD ID: 8690016
RS ID: rs203319
ClinVar ID: CV139966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,914,593
GRCh38 22 41,518,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032143.1:g.54465C>T
NC_000022.11:g.41518589C>T
NC_000022.10:g.41914593C>T
NM_001098.3:c.1032+17C>T
More... 		09/06/2013 intron variant benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACO2
Accession:NM_001098
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000123483 CLINVAR
  RCV001515839 CLINVAR
  RCV001548949 CLINVAR
  RCV001548950 CLINVAR
dbSNP (RS) rs203319 CLINVAR
MedGen C3281192 CLINVAR
  C3661900 CLINVAR
  C4225384 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACO2 CLINVAR
OMIM 100850 CLINVAR
  614559 CLINVAR
  616289 CLINVAR