All variants in the PGAP3 gene

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     

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     
+/. 5 c.507C>A r.(?) p.(Tyr169*) - 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 - Philippe Campeau
+/. 5 c.507C>A r.(?) p.(Tyr169*) - 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 - Philippe Campeau
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