Variant #0000647298 (NC_000012.11:g.124197115G>C, NM_012463.3:c.3G>C (ATP6V0A2))
Individual ID |
00289442 |
Chromosome |
12 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.124197115G>C |
DNA change (hg38) |
g.123712568G>C |
Published as |
- |
ISCN |
- |
DB-ID |
ATP6V0A2_000049 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Carmela Fusco |
Database submission license |
No license selected |
Created by |
Carmela Fusco |
Date created |
2020-03-11 10:43:26 +01:00 (CET) |
Date last edited |
2020-07-03 12:56:47 +02:00 (CEST) |

Variant on transcripts
Screenings
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