All variants in the PORCN gene

Information The variants shown are described using the NM_203475.1 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     
+/+ exon 9 c.739_740del r.(?) p.Ser247Cysfs*68 - pathogenic g.48372647_48372648del g.48514259_48514260del - - PORCN_000167 - - - - Germline/De novo (untested) - - - - - Maria Paola Lombardi
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