Variant #0000668677 (NC_000022.10:g.41903841C>G, ACO2(NM_001098.2):c.220C>G)

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41903841C>G
DNA change (hg38) g.41507837C>G
Published as -
ISCN -
DB-ID ACO2_000005 See all 22 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00369 View details
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 -/? 3 c.220C>G r.(?) p.(Leu74Val)