All variants in the PCNT gene

Information The variants shown are described using the NM_006031.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.658G>T r.(?) p.(Glu220*) ACMG pathogenic g.47766060G>T g.46346146G>T - - PCNT_000174 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/? 4 c.658G>T r.(?) p.(Glu220*) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - Emmelien Aten
+/? 4 c.658G>T r.(?) p.(Glu220*) - pathogenic g.47766060G>T g.46346146G>T - - PCNT_000014 - PubMed: Elen Griffith 2008 - - Unknown - - - 0 - Emmelien Aten
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