Variant #0000686411 (NC_000008.10:g.77896070_77896076del, PEX2(NM_000318.2):c.339_345del)

Individual ID 00309973
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.77896070_77896076del
DNA change (hg38) -
Published as 339_345delCAGGTGG
ISCN -
DB-ID PEX2_000018 See all 2 reported entries
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) 4.0E-5 View details
Owner Shandi Hiebler
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX2 NM_000318.2 +/. 4 c.339_345del r.(?) p.(Arg114*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311121 DNA SEQ - - PEX2 1 Shandi Hiebler