Variant #0000438287 (NC_000017.10:g.37829353G>A, PGAP3(NM_033419.3):c.850C>T)

Individual ID 00207398
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.37829353G>A
DNA change (hg38) g.39673100G>A
Published as -
ISCN -
DB-ID PGAP3_000008 See all 10 reported entries
Variant remarks Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 InternationalCreative Commons License
Created by Philippe Campeau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. 7 c.850C>T r.(?) p.(His284Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208435 DNA SEQ;SEQ-NG Peripheral blood WES PGAP3 1 Philippe Campeau