All variants in the PEX13 gene

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

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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     
+/. _1_4_ c.-83_*3220[0] r.0 p.0 - 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 - Johan den Dunnen
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