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.
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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.92G>A r.(?) p.(Arg31Gln) - likely pathogenic g.127255483C>T g.127615429C>T PAX4(NM_006193.2):c.92G>A (p.(Arg31Gln)) - PAX4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.92G>A r.(?) p.(Arg31Gln) - likely benign g.127255483C>T g.127615429C>T - - PAX4_000025 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115887120 Germline - 33/2795 individuals - 0 - Mohammed Faruq
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