All transcript variants in gene PEX6

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

1 entry on 1 page. Showing entry 1.
Legend  

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     
+?/+? 11 c.2120T>G Likely pathogenic r.(?) p.(Val707Gly) g.42934160A>C - - - PEX6_000171 - MORL Deafness Variation Database, PubMed: Krause 2009 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
Legend