All transcript variants in gene PEX6

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 5 c.821C>T - r.(?) p.(Pro274Leu) g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 5 c.821C>T - r.(?) p.(Pro274Leu) g.42946068G>A g.42978330G>A - - PEX6_000055 - PubMed: Ratbi 2015, Journal: Ratbi 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 5 c.821C>T - - p.Pro274Leu g.42946068G>A g.42978330G>A - - PEX6_000055 cDNA expression cloning in PEX6 defective fibroblasts showed reduced complementation (0.05) PubMed: Ratbi 2015, Journal: Ratbi 2015 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/+ 1 c.821C>T Pathogenic r.(?) p.(Pro274Leu) g.42946068G>A - - - PEX6_000055 - MORL Deafness Variation Database, PubMed: Ratbi 2015, PubMed: Steinberg 2004 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
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