Variant #0000686399 (NC_000008.10:g.77896042G>A, PEX2(NM_000318.2):c.373C>T)

Individual ID 00309961
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.77896042G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX2_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: Steinberg 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Nancy Braverman
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.373C>T r.(?) p.(Arg125*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311109 DNA SEQ - - PEX2 1 Nancy Braverman