Variant #0000673609 (NC_000022.10:g.18561176del, PEX26(NM_017929.5):c.34del)

Individual ID 00305936
Chromosome 22
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.18561176del
DNA change (hg38) g.18078410del
Published as 29delC
ISCN -
DB-ID PEX26_000037
Variant remarks -
Reference -
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 Sha Hong
Database submission license No license selected
Created by Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX26 NM_017929.5 +?/. - c.34del r.(?) p.(Leu12Serfs*70)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307067 DNA SEQ-NG - - PEX26 2 Sha Hong