Full data view for gene PGAP3

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.320C>T r.(?) p.(Ser107Leu) Unknown - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS1;GPIBD2 A-II-1 Knaus 2016:27120253 - F no - European American - 0 - - 1 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Paternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS1;GPIBD2 D-II-2 PubMed: Knaus 2016 - F no - British - 0 - - 1 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Maternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES DD 257982 PubMed: Pagnamenta 2017 - F no - white - 0 - - 2 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Maternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ - - DD - PubMed: Pagnamenta 2017 brother of individual 257982 M no - white - 0 - - 1 Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 III-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y 0 - - 1 Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 III-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y 0 - anti-epileptic medications 1 Philippe Campeau
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