Variant #0000668674 (NC_000022.10:g.41911805G>C, ACO2(NM_001098.2):c.719G>C)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41911805G>C
DNA change (hg38) g.41515801G>C
Published as -
ISCN -
DB-ID ACO2_000002 See all 8 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) 0.00059 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.719G>C r.(?) p.(Gly240Ala)