Variant #0000222866 (NC_000023.10:g.40456545C>T, ATP6AP2(NM_005765.2):c.345C>T)
Individual ID |
00132793 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.40456545C>T |
DNA change (hg38) |
g.40597293C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ATP6AP2_000015 |
Variant remarks |
- |
Reference |
PubMed: Korvatska 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|