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.604G>C r.(?) p.(Val202Leu) - likely benign g.7354399G>C g.7201803G>C PEX5(NM_000319.4):c.604G>C (p.(Val202Leu)) - PEX5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.604G>C r.(?) p.(Val202Leu) - VUS g.7354399G>C - [1244A>G]+[548-549dupATCG;604G>C] - PEX5_000035 - PubMed: Ebberink 2008 - - Germline - - - 0 - Johan den Dunnen
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