Variant #0000686439 (NC_000022.10:g.18562724G>A, PEX26(NM_017929.5):c.315G>A)

Individual ID 00309998
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.18562724G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX26_000023
Variant remarks -
Reference PubMed: Ebberink 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Shandi Hiebler
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX26 NM_017929.5 +/. 3 c.315G>A r.(?) p.(Trp105*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311146 DNA SEQ - - PEX26 1 Shandi Hiebler