All variants in the PEX16 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.952+2T>C r.888_952del p.Glu296fs - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.952+2T>C r.888_952del p.Glu296fs - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - Nancy Braverman
+/. - c.952+2T>C r.888_952del p.Glu296fs - pathogenic (recessive) g.45932447A>G - - - PEX16_000002 - PubMed: Shimozawa 2002 - - Germline - - - 0 - Johan den Dunnen
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