Variant #0000438289 (NC_000017.10:g.37830296G>T, PGAP3(NM_033419.3):c.507C>A)
Individual ID |
00207400 |
Chromosome |
17 |
Allele |
Both (homozygous) |
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.37830296G>T |
DNA change (hg38) |
g.39674043G>T |
Published as |
- |
ISCN |
- |
DB-ID |
PGAP3_000021 See all 2 reported entries |
Variant remarks |
Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Philippe Campeau |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Philippe Campeau |

Variant on transcripts
Screenings
|
|