Variant #0000686367 (NC_000002.11:g.61174775_61322083del, PEX13(NM_002618.3):c.-83_*3220[0])

Individual ID 00309931
Chromosome 2
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.61174775_61322083del
DNA change (hg38) -
Published as PEZ13_000009
ISCN -
DB-ID PEX13_000018
Variant remarks 147.308 kb deletion starting 70.094 kb upstream (incl. exons of FLJ32312), ending 45.692 kb downstream of PEX13 (incl. exons of KIAA1841 gene)
Reference PubMed: Al-Dirbashi
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 Johan den Dunnen
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     
PEX13 NM_002618.3 +/. _1_4_ c.-83_*3220[0] r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311078 DNA PCR;SEQ - - PEX13 1 Johan den Dunnen