Variant #0000257174 (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 |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41903841C>G |
DNA change (hg38) |
g.41507837C>G |
Published as |
ACO2(NM_001098.3):c.220C>G (p.L74V) |
ISCN |
- |
DB-ID |
ACO2_000005 See all 22 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00369 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |

Variant on transcripts
|
|