Variant #0000686354 (NC_000006.11:g.143789299_143789302del, PEX3(NM_003630.2):c.328_331del)

Individual ID 00309919
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.143789299_143789302del
DNA change (hg38) -
Published as 328_331delATAA
ISCN -
DB-ID PEX3_000003
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 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     
PEX3 NM_003630.2 +/. - c.328_331del r.(?) p.(Ile110Valfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311066 DNA SEQ - - PEX3 1 Johan den Dunnen