Full data view for gene PGAP3

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.507C>A r.(?) p.(Tyr169*) Both (homozygous) - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, emulsion PCR HPMRS4;GPIBD10 Patient 1 PubMed: Akgün Doğan et al., 2018 Second child of the parents (first cousin marriage), born via cesarean delivery at term. Died due to aspiration pneumonia-related respiratory distress. M yes ? (unknown) - 00y18m 0 - - 1 Philippe Campeau
+/. 5 c.507C>A r.(?) p.(Tyr169*) Both (homozygous) - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, emulsion PCR HPMRS4;GPIBD10 Patient 2 PubMed: Akgün Doğan et al., 2018 3rd child of parents (first cousin marriage), younger sister of patient 1, born via cesarean delivery at 36 weeks F yes - - >00y01m 0 - - 1 Philippe Campeau
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