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.1683C>T r.(?) p.(Leu561=) - likely benign g.7362425C>T g.7209829C>T PEX5(NM_001131025.1):c.1707C>T (p.L569=) - PEX5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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