All variants in the PEX5 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000319.4 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     
+/. - c.1370+5G>A r.spl? p.? - pathogenic g.7361270G>A g.7208674G>A PEX5(NM_001131025.1):c.1394+5G>A - PEX5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 12 c.1370+5G>A r.spl p.? - pathogenic (recessive) g.7361270G>A - 1394+5G>A R394S r.395_465del - PEX5_000007 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
Legend   How to query