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.452C>G r.(?) p.(Pro151Arg) - VUS g.7351610C>G g.7199014C>G - - PEX5_000027 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200720523 Germline - 13/2793 individuals - 0 - Mohammed Faruq
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