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.
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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.1645C>T r.(?) p.(Arg549Trp) - pathogenic (recessive) g.7362387C>T g.7209791C>T NM_001131025.1:c.1669C>T - PEX5_000025 low genotype/phenotype correlation PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
+/. 14 c.1645C>T r.(?) p.(Arg549Trp) - pathogenic (recessive) g.7362387C>T - 1669C>T (R557W) - PEX5_000008 - PubMed: Ebberink 2008 - - Germline - - - 0 - Nancy Braverman
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