All variants in the PCNT gene

Information The variants shown are described using the NM_006031.5 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.2407C>T r.(?) p.(Gln803Ter) - pathogenic g.47783647C>T g.46363732C>T PCNT(NM_006031.5):c.2407C>T (p.Q803*) - PCNT_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 14 c.2407C>T r.(?) p.(Gln803Ter) ACMG pathogenic (recessive) g.47783647C>T g.46363732C>T - - PCNT_000223 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - 0 - Johan den Dunnen
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