All variants in the PEX26 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_017929.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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     
+/. 3 c.296G>A r.(?) p.(Trp99*) - pathogenic (recessive) g.18562705G>A - - - PEX26_000007 - PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
+/. - c.296G>A r.(?) p.(Trp99*) - pathogenic (recessive) g.18562705G>A - - - PEX26_000007 - PubMed: Al-Sayed 2007 - - Germline yes - - 0 - Johan den Dunnen
+/. 3 c.296G>A r.(?) p.(Trp99*) - pathogenic (recessive) g.18562705G>A g.18079939G>A The entered coordinates do not agree with the intron/exon boundaries for the selected transcript - PEX26_000007 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query