Variant #0000358038 (NC_000017.10:g.37840884dup, PGAP3(NM_033419.3):c.402dup)
Individual ID |
00155272 |
Chromosome |
17 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.37840884dup |
DNA change (hg38) |
g.39684631dup |
Published as |
- |
ISCN |
- |
DB-ID |
PGAP3_000013 See all 10 reported entries |
Variant remarks |
- |
Reference |
PubMed: Abdel-Hamid et al. 2017 |
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 |
Philippe Campeau |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Philippe Campeau |

Variant on transcripts
Screenings
|
|