Variant #0000686402 (NC_000008.10:g.77895865del, PEX2(NM_000318.2):c.550del)

Individual ID 00309964
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.77895865del
DNA change (hg38) -
Published as 550delC
ISCN -
DB-ID PEX2_000006
Variant remarks -
Reference PubMed: Shimozawa 2000
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 Nancy Braverman
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 +/. 4 c.550del r.(?) p.(Cys184Valfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311112 DNA SEQ - - PEX2 1 Nancy Braverman