Unique 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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

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     
+/. 1 2 c.2T>C r.(?) p.0? - pathogenic (recessive) g.18561144T>C - - - PEX26_000008 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - - - Nancy Braverman
?/. 1 - c.32C>T r.(?) p.(Pro11Leu) - VUS g.18561174C>T g.18078408C>T PEX26(NM_001127649.2):c.32C>T (p.P11L) - PEX26_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.34del r.(?) p.(Leu12Serfs*70) - likely pathogenic g.18561176del g.18078410del 29delC - PEX26_000037 - - - - Germline - - - - - Sha Hong
+/. 1 1 c.34dup r.(?) p.(Leu12Profs*103) - pathogenic (recessive) g.18561176dup - 34_35insC - PEX26_000010 - PubMed: Matsumoto 2003 - - Germline - - - - - Nancy Braverman
+/. 2 2 c.37_38del r.(?) p.(Arg13Glyfs*101) - pathogenic (recessive) g.18561179_18561180del g.18078413_18078414del 37_38delAG - PEX26_000001 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
+/. 1 2 c.73_79del r.(?) p.(Val25Argfs*55) - pathogenic (recessive) g.18561215_18561221del - 73_79delGTGCGCG - PEX26_000021 - PubMed: Ebberink 2011 - - Germline - - - - - Shandi Hiebler
-?/. 1 - c.98C>T r.(?) p.(Pro33Leu) - likely benign g.18561240C>T - PEX26(NM_001127649.2):c.98C>T (p.P33L) - PEX26_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.130C>T r.(?) p.(Leu44Phe) - benign g.18561272C>T g.18078506C>T PEX26(NM_001127649.2):c.130C>T (p.L44F) - PEX26_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.131T>C r.(?) p.(Leu44Pro) - pathogenic (recessive) g.18561273T>C - - - PEX26_000016 - PubMed: Weller 2005 - - Germline - - - - - Nancy Braverman
+/. 1 - c.134T>C r.(?) p.(Leu45Pro) - pathogenic (recessive) g.18561276T>C - T134C - PEX26_000009 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.185G>A r.(?) p.(Trp62*) - pathogenic (recessive) g.18561327G>A - - - PEX26_000022 - PubMed: Ebberink 2011 - - Germline - - - - - Shandi Hiebler
+/. 2 2 c.192_216del r.(?) p.(Ser64Argfs*10) - pathogenic (recessive) g.18561334_18561358del g.18078568_18078592del 37_38delAG - PEX26_000003 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Nancy Braverman, Johan den Dunnen
-?/. 1 - c.200A>G r.(?) p.(Asn67Ser) - likely benign g.18561342A>G g.18078576A>G PEX26(NM_001127649.2):c.200A>G (p.N67S) - PEX26_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2i c.230+1G>T r.[230_231ins[u;230+2_230+173],230_231ins[u;230+2_230+236],230_231ins[u;230+2_231-618]] p.? - pathogenic (recessive) g.18561373G>T - - - PEX26_000013 - PubMed: Weller 2005 - - Germline - - - - - Nancy Braverman
+/. 1 3 c.254dup r.(?) p.(Cys86Valfs*29) - pathogenic (recessive) g.18562663dup - 254_255insT - PEX26_000012 - PubMed: Matsumoto 2003, PubMed: Weller 2005 - - Germline - - - - - Nancy Braverman
+/. 1 - c.265G>A r.(?) p.(Gly89Arg) - pathogenic (recessive) g.18562674G>A - G265A - PEX26_000011 - PubMed: Matsumoto 2003 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 14 3, 4 c.292C>T r.(?), r.292c>u p.(Arg98Trp), p.Arg98Trp - pathogenic (recessive), likely pathogenic, pathogenic g.18562701C>T g.18079935C>T C292T, PEX26(NM_001127649.2):c.292C>T (p.R98W), 1714_1715delCA - PEX26_000005 VKGL data sharing initiative Nederland PubMed: Steinberg 2004, PubMed: Matsumoto 2003, PubMed: Matsumoto 2003, PubMed: Weller 2005, 5 more items - - Germline, CLASSIFICATION record - - - - - Nancy Braverman, Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 3 3 c.296G>A r.(?) p.(Trp99*) - pathogenic (recessive) g.18562705G>A g.18079939G>A The entered coordinates do not agree with the intron/exon boundaries for the selected transcript - PEX26_000007 - PubMed: Steinberg 2004, PubMed: Al-Sayed 2007, PubMed: Yik 2009 - - Germline yes - - - - Nancy Braverman, Johan den Dunnen
+/. 1 3 c.315G>A r.(?) p.(Trp105*) - pathogenic (recessive) g.18562724G>A - - - PEX26_000023 - PubMed: Ebberink 2011 - - Germline - - - - - Shandi Hiebler
+/. 1 3 c.350C>T r.(?) p.(Pro117Leu) - pathogenic (recessive) g.18562759C>T - 305C>T (P117L) - PEX26_000015 - PubMed: Weller 2005 - - Germline - - - - - Nancy Braverman
+/. 2 3 c.353C>G r.(?) p.(Pro118Arg) - pathogenic (recessive) g.18562762C>G g.18079996C>G - - PEX26_000004 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.359T>G r.(?) p.(Val120Gly) - likely pathogenic g.18562768T>G g.18080002T>G - - PEX26_000038 - - - - Germline - - - - - Sha Hong
-?/. 1 - c.409G>C r.(?) p.(Val137Leu) - likely benign g.18566240G>C - PEX26(NM_001127649.2):c.409G>C (p.V137L) - PEX26_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.457C>G r.(?) p.(Leu153Val) - benign, VUS g.18566288C>G g.18083522C>G PEX26(NM_001127649.2):c.457C>G (p.L153V) - PEX26_000018 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Yik 2009, PubMed: Weller 2005, Faruq 2020, submtted - rs12484657 Germline, CLASSIFICATION record - 0.03, 3/2795 individuals - - - Johan den Dunnen, Mohammed Faruq, VKGL-NL_Groningen
+/. 1 - c.547_548ins[T;426_547] r.(?) p.[Gly183Val;insAla143_Val182] - pathogenic (recessive) g.18566257_18566379dup - c.426_548dup122insT (A143_V182dup+G183V) - PEX26_000017 - PubMed: Weller 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.574C>T r.(?) p.(Arg192*) - pathogenic (recessive) g.18566405C>T g.18083639C>T - - PEX26_000006 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.628C>T r.(?) p.(His210Tyr) - VUS g.18566459C>T g.18083693C>T PEX26(NM_001127649.2):c.628C>T (p.(His210Tyr)) - PEX26_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.635G>T r.(?) p.(Gly212Val) - VUS g.18566466G>T g.18083700G>T PEX26(NM_001127649.2):c.635G>T (p.G212V) - PEX26_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 3i c.667+2T>C r.spl p.? - pathogenic (recessive) g.18566500T>C g.18083734T>C - - PEX26_000002 - PubMed: Steinberg 2004, PubMed: Yik 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.667+8A>G r.(=) p.(=) - likely benign g.18566506A>G g.18083740A>G PEX26(NM_001127649.2):c.667+8A>G - PEX26_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.668-5G>T r.spl? p.? - likely benign g.18567873G>T g.18085107G>T PEX26(NM_001127649.2):c.668-5G>T (p.?) - PEX26_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.728C>T r.(?) p.(Ala243Val) - likely benign g.18567938C>T g.18085172C>T PEX26(NM_001127649.2):c.728C>T (p.A243V) - PEX26_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.743T>C r.(?) p.(Phe248Ser) - VUS g.18567953T>C - PEX26(NM_001127649.2):c.743T>C (p.F248S) - PEX26_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.862del r.(?) p.(Arg288Alafs*79) - pathogenic (recessive) g.18570785del - 862delC - PEX26_000014 - PubMed: Weller 2005 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.911G>A r.(?) p.(Arg304His) - likely benign g.18570834G>A g.18088068G>A PEX26(NM_001127649.2):c.911G>A (p.R304H) - PEX26_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*167G>A r.(=) p.(=) - benign g.18571008G>A g.18088242G>A PEX26(NM_001127649.2):c.*167G>A - PEX26_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*2162G>A r.(=) p.(=) - VUS g.18573003G>A g.18090237G>A - - PEX26_000036 14 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45489191 Germline - 14/2793 individuals - - - Mohammed Faruq
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