All variants in the PGAP3 gene

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

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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     
+?/. - c.817_820del r.(?) p.(Asp273Serfs*37) - likely pathogenic g.37829384_37829387del g.39673131_39673134del - - PGAP3_000019 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - Philippe Campeau
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