Full data view for 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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.122A>G r.(?) p.(Gln41Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.157C>T r.157c>u p.Arg53* Both (homozygous) - pathogenic (recessive) g.143780305C>T - - - PEX3_000009 - PubMed: South 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD401 PubMed: South 2000 - - yes - - - 0 - - 1 Johan den Dunnen
-/. - c.206-14del r.(=) p.(=) Unknown - benign g.143784039del g.143462902del PEX3(NM_003630.2):c.206-14delT - PEX3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.206-1G>T r.[206_232del,206_287del,206_331del] p.[Val69_Arg77del,Val69Glyfs*6,Val69_Ser111delinsGly] Both (homozygous) - pathogenic (recessive) g.143784052G>T - - - PEX3_000004 - PubMed: Bjørgo 2017 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD FamPatIV1/2 PubMed: Bjørgo 2017 2-generation family, 2 affected (F, M) - - Norway Iraq - 0 - - 1 Kathrine Bjørgo
+/. - c.328_331del r.(?) p.(Ile110Valfs*23) Both (homozygous) - pathogenic (dominant) g.143789299_143789302del - 328_331delATAA - PEX3_000003 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.(334_393del) r.334_393del p.Phe102_Val131del Both (homozygous) - pathogenic (recessive) g.45937086_45937279del - - - PEX3_000011 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD patient PubMed: Ebberink 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.382C>G r.(?) p.(Leu128Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.524-19T>C r.(=) p.(=) Unknown - benign g.143792675T>C g.143471538T>C PEX3(NM_003630.2):c.524-19T>C - PEX3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.543dup r.(?) p.(Val182Cysfs*3) Both (homozygous) - pathogenic (recessive) g.143792713dup - 543_544insT - PEX3_000001 - PubMed: Muntau 2000, PubMed: Shimozawa 2000, PubMed: South 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBDG-01/PBD400 PubMed: Muntau 2000, PubMed: Shimozawa 2000, PubMed: South 2000 - M yes Netherlands - - 0 - - 1 Nancy Braverman
+/. - c.856C>T r.(?) p.(Arg286*) Both (homozygous) - pathogenic (recessive) g.143800250C>T - - - PEX3_000010 - PubMed: Dursun 2009 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Dursun 2009 - M - Turkey - 00y00m03d 0 - - 1 Johan den Dunnen
+/. - c.898C>T r.(?) p.(Arg300*) Maternal (confirmed) - pathogenic (recessive) g.143800292C>T - - - PEX3_000012 - PubMed: Maxit 2017 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Maxit 2017 - M - Argentina - - 0 - - 1 Johan den Dunnen
+/. - c.942-8T>G r.942_1038del p.Ser314fs Both (homozygous) - pathogenic (recessive) g.143806281T>G - - - PEX3_000002 - PubMed: Muntau 2000, PubMed: Ghaedi 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBDG-02 PubMed: Muntau 2000, PubMed: Ghaedi 2000 - M yes Italy - - 0 - - 1 Nancy Braverman
+/. - c.991G>A r.(?) p.(Gly331Arg) Paternal (confirmed) - pathogenic (recessive) g.143806338G>A - - - PEX3_000013 - PubMed: Maxit 2017 - - Germline - - - 0 - DNA SEQ - - PBD patient PubMed: Maxit 2017 - M - Argentina - - 0 - - 1 Johan den Dunnen
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