All variants in the PEX12 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000286.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.102A>T r.(?) p.(Arg34Ser) - benign g.33904939T>A g.35577920T>A PEX12(NM_000286.2):c.102A>T (p.R34S) - PEX12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.102A>T r.(?) p.(Arg34Ser) - benign g.33904939T>A g.35577920T>A PEX12(NM_000286.2):c.102A>T (p.R34S) - PEX12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 c.102A>T r.(?) p.(Arg34Ser) - pathogenic (recessive) g.33904939T>A - - - PEX12_000024 - PubMed: Zeharia 2007 - - Germline - - - 0 - Nancy Braverman
+/. - c.102A>T r.(?) p.(Arg34Ser) - pathogenic (recessive) g.33904939T>A - - - PEX12_000024 - PubMed: Zeharia 2007 - - Germline - - - 0 - Johan den Dunnen
?/. - c.102A>T r.(?) p.(Arg34Ser) - VUS g.33904939T>A - - - PEX12_000024 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
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