Variant #0000438285 (NC_000017.10:g.37840962G>A, PGAP3(NM_033419.3):c.320C>T)
Individual ID |
00207396 |
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.37840962G>A |
DNA change (hg38) |
g.39684709G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PGAP3_000011 See all 6 reported entries |
Variant remarks |
Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function. |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
Philippe Campeau |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Philippe Campeau |

Variant on transcripts
Screenings
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