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.

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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.1775C>T r.(?) p.(Ser592Leu) - pathogenic (recessive) g.7362698C>T g.7210102C>T NM_001131025.1:c.1799C>T - PEX5_000026 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
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