RGD:127294676 Rat Genome Database

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Variant: RGD:127294676 -  Homo sapiens

RGD ID: 127294676
RS ID: rs2066404662
ClinVar ID: CV1129165
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,903,790
GRCh38 22 41,507,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098.3:c.174-5C>A
NG_032143.1:g.43662C>A
NC_000022.11:g.41507786C>A
NC_000022.10:g.41903790C>A
02/07/2020 intron variant likely benign none provided

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001452295 CLINVAR
dbSNP (RS) rs2066404662 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACO2 CLINVAR
OMIM 100850 CLINVAR