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     
+/? 16 c.3271_3272del r.(?) p.(Leu1091Valfs*102) - pathogenic g.47801714_47801715del g.46381799_46381800del 3271_3272delTT (Leu1091Valfs*101) - PCNT_000004 - PubMed: Willems 2009 - - Unknown - - - 0 - Emmelien Aten
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