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.904G>A r.(?) p.(Glu302Lys) - likely benign g.47766840G>A g.46346926G>A PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys)) - PCNT_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.904G>A r.(?) p.(Glu302Lys) - likely benign g.47766840G>A g.46346926G>A PCNT(NM_006031.5):c.904G>A (p.E302K, p.(Glu302Lys)) - PCNT_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.904G>A r.(?) p.(Glu302Lys) - VUS g.47766840G>A g.46346926G>A - - PCNT_000204 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs186701249 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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