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.
Legend   How to query  

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.681-2A>C r.spl? p.? - VUS g.33903202T>G g.35576183T>G - - PEX12_000001 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187526749 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 2i c.681-2A>C r.spl p.? - pathogenic (recessive) g.33903202T>G - - - PEX12_000001 no variant 2nd chromosome PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
+/. - c.681-2A>C r.spl p.? - pathogenic (recessive) g.33903202T>G - - - PEX12_000001 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query