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.

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.526C>T r.(?) p.(Arg176Ter) - pathogenic g.45936170G>A g.45914619G>A PEX16(NM_004813.4):c.526C>T (p.R176*) - PEX16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.526C>T r.526c>u p.Arg176* - pathogenic (recessive) g.45936170G>A - - - PEX16_000001 - PubMed: Honsho 1998, PubMed: South 1999 - - Germline - - - 0 - Nancy Braverman
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