All variants in the PPEF1 gene

Information The variants shown are described using the NM_006240.2 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.1327G>A r.(?) p.(Gly443Ser) - VUS g.18824596G>A g.18806478G>A G443S - PPEF1_000030 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - Lucy Raymond
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