Variant #0000686418 (NC_000008.10:g.77895550dup, PEX2(NM_000318.2):c.865dup)

Individual ID 00309978
Chromosome 8
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.77895550dup
DNA change (hg38) -
Published as 865_866insA
ISCN -
DB-ID PEX2_000043 See all 2 reported entries
Variant remarks father not available
Reference PubMed: Sevin 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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     
PEX2 NM_000318.2 +/. - c.865dup r.(?) p.(Ser289Lysfs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311126 DNA SEQ - PEX gene panel PEX2 1 Johan den Dunnen