Unique variants in gene PEX3

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_003630.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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 - c.122A>G r.(?) p.(Gln41Arg) - VUS g.143780270A>G g.143459133A>G PEX3(NM_003630.2):c.122A>G (p.Q41R) - PEX3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.157C>T r.157c>u p.Arg53* - pathogenic (recessive) g.143780305C>T - - - PEX3_000009 - PubMed: South 2000 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.206-14del r.(=) p.(=) - benign g.143784039del g.143462902del PEX3(NM_003630.2):c.206-14delT - PEX3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.206-1G>T r.[206_232del,206_287del,206_331del] p.[Val69_Arg77del,Val69Glyfs*6,Val69_Ser111delinsGly] - pathogenic (recessive) g.143784052G>T - - - PEX3_000004 - PubMed: Bjørgo 2017 - - Germline - - - - - Kathrine Bjørgo
+/. 1 - c.328_331del r.(?) p.(Ile110Valfs*23) - pathogenic (dominant) g.143789299_143789302del - 328_331delATAA - PEX3_000003 - PubMed: Ebberink 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(334_393del) r.334_393del p.Phe102_Val131del - pathogenic (recessive) g.45937086_45937279del - - - PEX3_000011 - PubMed: Ebberink 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.382C>G r.(?) p.(Leu128Val) - likely benign g.143792148C>G g.143471011C>G PEX3(NM_003630.2):c.382C>G (p.(Leu128Val)) - PEX3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.524-19T>C r.(=) p.(=) - benign g.143792675T>C g.143471538T>C PEX3(NM_003630.2):c.524-19T>C - PEX3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.543dup r.(?) p.(Val182Cysfs*3) - pathogenic (recessive) g.143792713dup - 543_544insT - PEX3_000001 - PubMed: Muntau 2000, PubMed: Shimozawa 2000, PubMed: South 2000 - - Germline - - - - - Nancy Braverman
+/. 1 - c.856C>T r.(?) p.(Arg286*) - pathogenic (recessive) g.143800250C>T - - - PEX3_000010 - PubMed: Dursun 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.898C>T r.(?) p.(Arg300*) - pathogenic (recessive) g.143800292C>T - - - PEX3_000012 - PubMed: Maxit 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.942-8T>G r.942_1038del p.Ser314fs - pathogenic (recessive) g.143806281T>G - - - PEX3_000002 - PubMed: Muntau 2000, PubMed: Ghaedi 2000 - - Germline - - - - - Nancy Braverman
+/. 1 - c.991G>A r.(?) p.(Gly331Arg) - pathogenic (recessive) g.143806338G>A - - - PEX3_000013 - PubMed: Maxit 2017 - - Germline - - - - - Johan den Dunnen
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