Variant #0000687351 (NC_000022.10:g.18566405C>T, PEX26(NM_017929.5):c.574C>T)

Individual ID 00310651
Chromosome 22
Allele Parent #2
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.18566405C>T
DNA change (hg38) g.18083639C>T
Published as -
ISCN -
DB-ID PEX26_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Yik 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX26 NM_017929.5 +/. 4 c.574C>T r.(?) p.(Arg192*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311803 DNA SEQ - - PEX26 2 Johan den Dunnen