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.

1 entry on 1 page. Showing entry 1.
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.115C>G r.(?) p.(Pro39Ala) - VUS g.7343088C>G g.7190492C>G PEX5(NM_000319.4):c.115C>G (p.(Pro39Ala)) - PEX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend   How to query