All variants in the PCNT gene

Information The variants shown are described using the NM_006031.5 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     
+/? 14 c.2326_2327del r.(?) p.(Glu776Lysfs*3) - pathogenic g.47783566_47783567del g.46363651_46363652del 2326_2327delGA - PCNT_000002 - PubMed: Willems 2009 - - Unknown - - - 0 - Emmelien Aten
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