All variants in the PAX4 gene

Information The variants shown are described using the NM_006193.2 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     
+?/. 3 c.374_412del r.337_412del p.Val113Leufs*69 - likely pathogenic g.127254537_127254575del g.127614483_127614521del - - PAX4_000023 Deletion of 3' part of exon 3 leads to exon 3 skipping. Variant not found in 150 control Japanese subjects. PubMed: Jo 2011 - - Unknown yes - - 0 - Jilani Jawaid
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