Variant #0000048346 (NC_000017.10:g.37830928dup, PGAP3(NM_033419.3):c.439dup)

Individual ID 00025463
Chromosome 17
Allele Paternal (confirmed)
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.37830928dup
DNA change (hg38) g.39674675dup
Published as -
ISCN -
DB-ID PGAP3_000003
Variant remarks In vitro functional expression studies in CHO cells showed that the mutant c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins.
Reference PubMed: Howard et al. 2014
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 InternationalCreative Commons License
Created by Philippe Campeau
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGAP3 NM_033419.3 +/. - c.439dup r.(?) p.(Leu147Profs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025465 DNA SEQ-NG - - PGAP3 2 Philippe Campeau