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.

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     
+/. 3 c.730_733dup r.(?) p.(Leu245Cysfs*19) - pathogenic (recessive) g.33903148_33903151dup - 733_734insGCCT - PEX12_000005 - PubMed: Chang 1997, PubMed: Chang 1998 - - Germline - - - 0 - Nancy Braverman
+/. - c.730_733dup r.(?) p.(Leu245Cysfs*19) - pathogenic (recessive) g.33903148_33903151dup - 734ins4bpGCCT - PEX12_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.730_733dup r.(?) p.(Leu245Cysfs*19) - pathogenic (recessive) g.33903149_33903152dup g.35576130_35576133dup 730_733dupGCCT - PEX12_000005 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
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