Variant #0000668728 (NC_000022.10:g.41911804G>A, ACO2(NM_001098.2):c.718G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41911804G>A
DNA change (hg38) g.41515800G>A
Published as -
ISCN -
DB-ID ACO2_000056 See all 3 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) 6.0E-5 View details
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACO2 NM_001098.2 +/. 6 c.718G>A r.(?) p.(Gly240Ser)