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.

14 entries on 1 page. Showing entries 1 - 14.
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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.292C>T r.(?) p.(Arg98Trp) - pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.292C>T r.(?) p.(Arg98Trp) - likely pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.292C>T r.(?) p.(Arg98Trp) - pathogenic g.18562701C>T g.18079935C>T PEX26(NM_001127649.2):c.292C>T (p.R98W) - PEX26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.292C>T r.292c>u p.Arg98Trp - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Matsumoto 2003, PubMed: Matsumoto 2003 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Gootjes 2003 - - Germline - - - 0 - Nancy Braverman
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - Nancy Braverman
+/. 4 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - C292T - PEX26_000005 - PubMed: Matsumoto 2003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - C292T - PEX26_000005 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Weller 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T - - - PEX26_000005 - PubMed: Yik 2009, MORL Deafness Variation Database - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.292C>T r.(?) p.(Arg98Trp) - pathogenic (recessive) g.18562701C>T g.18079935C>T 1714_1715delCA - PEX26_000005 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
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