All variants in the PEX10 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_153818.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.790C>T r.(?) p.(Arg264Ter) - pathogenic g.2338205G>A g.2406766G>A PEX10(NM_153818.1):c.790C>T (p.R264*) - PEX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 4 c.790C>T r.(?) p.(Arg264*) - pathogenic (recessive) g.2338205G>A - 730C>T (Arg244X) - PEX10_000005 - PubMed: Krause 2006 - - Germline - - - 0 - Nancy Braverman
+/. 4 c.790C>T r.0 p.0 - pathogenic (recessive) g.2338205G>A - 730C>T (Arg244X) - PEX10_000005 no RNA detectable PubMed: Krause 2006 - - Germline - - - 0 - Nancy Braverman
+/. - c.790C>T r.(?) p.(Arg264*) - pathogenic (recessive) g.2338205G>A - 730 (R264X) - PEX10_000005 - PubMed: Steinberg 2004 - - Germline - - - 0 - Johan den Dunnen
+/. - c.790C>T r.790c>u p.Arg264* - pathogenic (recessive) g.2338205G>A - - - PEX10_000005 - PubMed: Regal 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.790C>T r.(?) p.(Arg264*) - pathogenic (recessive) g.2338205G>A - 730C>T - PEX10_000005 - PubMed: Yik 2009 - - Germline - - - 0 - Johan den Dunnen
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