Full data view for gene PEX13

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_002618.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. _1_4_ c.-83_*3220[0] r.0 p.0 Both (homozygous) - pathogenic (recessive) g.61174775_61322083del - PEZ13_000009 - PEX13_000018 147.308 kb deletion starting 70.094 kb upstream (incl. exons of FLJ32312), ending 45.692 kb downstream of PEX13 (incl. exons of KIAA1841 gene) PubMed: Al-Dirbashi - - Germline - - - 0 - DNA PCR, SEQ - - PBD Pat1 PubMed: Al-Dirbashi - M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. - c.10C>T r.(?) p.(Gln4Ter) Unknown - pathogenic g.61244904C>T g.61017769C>T PEX13(NM_002618.3):c.10C>T (p.Q4*) - PEX13_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - likely benign g.61244926C>T g.61017791C>T PEX13(NM_002618.3):c.32C>T (p.(Pro11Leu)) - PEX13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.92+2T>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.61244988T>G - - - PEX13_000005 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.107_120del r.(?) p.(Gly36Aspfs*26) Both (homozygous) - pathogenic (recessive) g.61258568_61258581del - - - PEX13_000004 - PubMed: Al-Dirbashi - - Germline - - - 0 - DNA SEQ - - PBD Pat2 PubMed: Al-Dirbashi - M yes Saudi Arabia - - 0 - - 1 Nancy Braverman
?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - VUS g.61258816G>A g.61031681G>A PEX13(NM_002618.3):c.355G>A (p.V119I) - PEX13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.439_441del r.(?) p.(Met147del) Both (homozygous) - pathogenic (recessive) g.61258900_61258902del - 439_441delATG - PEX13_000006 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
?/. - c.599G>A r.(?) p.(Gly200Asp) Unknown - VUS g.61259060G>A g.61031925G>A - - PEX13_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.676C>T r.(?) p.(Arg226*) Both (homozygous) - pathogenic (recessive) g.61259137C>T - - - PEX13_000007 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 2 patients - - - - - 0 - - 1 Nancy Braverman
+/. - c.702G>A r.702g>a p.Trp234* Both (homozygous) - pathogenic (recessive) g.61259163G>A - - - PEX13_000002 - PubMed: Shimozawa 1999 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD H-02 PubMed: Shimozawa 1999 - - - - - - 0 - - 1 Nancy Braverman
+/. - c.937T>G r.937u>g p.Trp313Gly Both (homozygous) - pathogenic (recessive) g.61275630T>G - - - PEX13_000003 - PubMed: Krause 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD PBD-HR11 PubMed: Krause 2006 - F - Turkey - - 0 - - 1 Nancy Braverman
+/. - c.977T>C r.977u>c p.Ile326Thr Both (homozygous) - pathogenic (recessive) g.61275670T>C - - - PEX13_000001 - PubMed: Shimozawa 1999 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - PBD H-01 PubMed: Shimozawa 1999, PubMed: Shimozawa 1998 - - - Japan - - 0 - - 1 Nancy Braverman
+/. - c.980C>G r.(?) p.(Pro327Arg) Both (homozygous) - pathogenic (recessive) g.61275673C>G - - - PEX13_000008 - PubMed: Ebberink 2011 - - Germline - - - 0 - DNA SEQ - - PBD - PubMed: Ebberink 2011 - - - - - - 0 - - 1 Nancy Braverman
-?/. - c.1090G>A r.(?) p.(Ala364Thr) Unknown - likely benign g.61275783G>A - PEX13(NM_002618.3):c.1090G>A (p.A364T) - PEX13_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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