All variants in the PEX26 gene

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_017929.5 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.457C>G r.(?) p.(Leu153Val) - benign g.18566288C>G g.18083522C>G PEX26(NM_001127649.2):c.457C>G (p.L153V) - PEX26_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.457C>G r.(?) p.(Leu153Val) - benign g.18566288C>G g.18083522C>G - - PEX26_000018 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12484657 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.457C>G r.(?) p.(Leu153Val) - VUS g.18566288C>G - - - PEX26_000018 - PubMed: Weller 2005 - rs12484657 Germline - - - 0 - Johan den Dunnen
-/. - c.457C>G r.(?) p.(Leu153Val) - benign g.18566288C>G g.18083522C>G - - PEX26_000018 - PubMed: Yik 2009 - - Germline - 0.03 - 0 - Johan den Dunnen
Legend   How to query