Variant #0000646834 (NC_000022.10:g.41907888C>G, ACO2(NM_001098.2):c.441C>G)
Individual ID |
00289017 |
Chromosome |
22 |
Allele |
Maternal (confirmed) |
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.41907888C>G |
DNA change (hg38) |
g.41511884C>G |
Published as |
- |
ISCN |
- |
DB-ID |
ACO2_000052 See all 4 reported entries |
Variant remarks |
- |
Reference |
Journal: Charif 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Khadidja Guehlouz |
Database submission license |
No license selected |
Created by |
Khadidja Guehlouz |

Variant on transcripts
Screenings
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