Variant #0000652525 (NC_000008.10:g.77896060G>A, PEX2(NM_000318.2):c.355C>T)

Individual ID 00294668
Chromosome 8
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.77896060G>A
DNA change (hg38) g.76983824G>A
Published as -
ISCN -
DB-ID PEX2_000002 See all 10 reported entries
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs61752123
Origin Germline
Segregation -
Frequency 2/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00015 View details
Owner Mohammed Faruq
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 +/. - c.355C>T r.(?) p.(Arg119*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295836 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq