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     
?/. - c.827C>T r.(?) p.(Pro276Leu) - VUS g.37829376G>A g.39673123G>A PGAP3(NM_033419.5):c.827C>T (p.P276L) - PGAP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/+? - c.827C>T r.(?) p.(Pro276Leu) - likely pathogenic g.37829376G>A g.39673123G>A - - PGAP3_000006 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
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