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     
+/? 15 c.3109G>T r.(?) p.(Glu1037*) - pathogenic g.47786998G>T g.46367083G>T Glu1037X - PCNT_000003 - PubMed: Willems 2009 - - Unknown - - DdeI+ 0 - Emmelien Aten
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