All transcript variants in gene PEX6

Information The variants shown are described using the NM_000287.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.224dup Pathogenic r.(?) p.(Val76Glyfs*2) g.42946665dup - - - PEX6_000228 - MORL Deafness Variation Database, PubMed: Ebberink 2010 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
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