All variants in the PEX12 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000286.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.126+1G>T r.spl? p.? - pathogenic g.33904914C>A g.35577895C>A PEX12(NM_000286.2):c.126+1G>T - PEX12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.126+1G>T r.spl? p.? - likely pathogenic g.33904914C>A g.35577895C>A PEX12(NM_000286.2):c.126+1G>T - PEX12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1i c.126+1G>T r.spl p.? - pathogenic (recessive) g.33904914C>A - - - PEX12_000010 - PubMed: Chang 1998 - - Germline - - - 0 - Nancy Braverman
+/. 1i c.126+1G>T r.spl p.? - pathogenic (recessive) g.33904914C>A - - - PEX12_000010 - PubMed: Chang 1998 - - Germline - - - 0 - Nancy Braverman
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