All variants in the PEX26 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_017929.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.353C>G r.(?) p.(Pro118Arg) - pathogenic (recessive) g.18562762C>G - - - PEX26_000004 - PubMed: Steinberg 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.353C>G r.(?) p.(Pro118Arg) - pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.353C>G r.(?) p.(Pro118Arg) other likely pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 This variant is predicted to be pathogenic by several prediction programs. CADD: 29, SIFT: 0.01, PPH2: 1, mutation taster: pathogenic - VCV000449363.4 rs61752135 Germline yes 4/4 chromosomes (2/2 affected sisters) and 2/4 chromosomes (2/2 unaffected sibs) - 0 - Guillermina García Sánchez
+?/. 3 c.353C>G r.(?) p.(Pro118Arg) - likely pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 This variant is predicted to be pathogenic by several prediction programs. CADD: 29, SIFT: 0.01, PPH2: 1, mutation taster: pathogeni - VCV000449363.4 rs61752135 Germline yes 4/4 chromosomes (2/2 affected sisters) and 2/4 chromosomes (2/2 unaffected sibs) - 0 - Guillermina García Sánchez
+?/. 3 c.353C>G r.(?) p.(Pro118Arg) - likely pathogenic (recessive) g.18562762C>G g.1809996C<G - - PEX26_000004 This variant is predicted to be pathogenic by several prediction programs. CADD: 29, SIFT: 0.01, PPH2: 1, mutation taster: pathogenic. - VCV000449363.4 rs61752135 Germline yes 4/4 chromosomes (2/2 affected sisters) and 2/4 chromosomes (2/2 unaffected sibs) - 0 - Guillermina García Sánchez
+?/. 3 c.353C>G r.(?) p.(Pro118Arg) - likely pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 This variant is predicted to be pathogenic by several prediction programs. CADD: 29, SIFT: 0.01, PPH2: 1, mutation taster: pathogenic. - - rs61752135 Germline yes 4/4 chromosomes (2/2 affected sisters) and 2/4 chromosomes (2/2 unaffected sibs) - 0 - Guillermina García Sánchez
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