All variants in the PGAP3 gene

Information The variants shown are described using the NM_033419.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.320C>T r.(?) p.(Ser107Leu) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) - pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 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. - - - Germline - - - 0 - Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) - pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 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. - - - Germline - - - 0 - Philippe Campeau
Legend   How to query