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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902992_33902993del - 887_888delTC - PEX12_000008 - PubMed: Chang 1998 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902993_33902994del - 887_888delTC - PEX12_000008 - PubMed: Gootjes 2003 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902992_33902993del - 887_888delTC - PEX12_000008 - PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902992_33902993del - 887_888delTC - PEX12_000008 - PubMed: Gootjes 2003 - - Germline - - - 0 - Nancy Braverman
+/. - c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902992_33902993del - 887_888delTC - PEX12_000008 - PubMed: Konkolova 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902994_33902995del g.35575975_35575976del - - PEX12_000008 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.888_889del r.(?) p.(Leu297Thrfs*12) - pathogenic (recessive) g.33902994_33902995del g.35575975_35575976del - - PEX12_000008 no variant 2nd chromosome reported PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
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