All variants in the PAX4 gene

Information The variants shown are described using the NM_006193.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
+?/. 7i c.748-1G>A r.748_750del p.Gln250del - likely pathogenic g.127251731C>T g.127611677C>T PAX4 IVS7-1G>A - PAX4_000009 Variant not found in 344 non-diabetic control subjects. PubMed: Sujjitjoon 2015 - - Unknown yes - - 0 - Jilani Jawaid
+?/. - c.748-1G>A r.spl? p.? - likely pathogenic g.127251731C>T g.127611677C>T - - PAX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query