Variant #0000629273 (NC_000012.11:g.7362387C>T, PEX5(NM_000319.4):c.1645C>T)

Individual ID 00274154
Chromosome 12
Allele Maternal (confirmed)
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.7362387C>T
DNA change (hg38) g.7209791C>T
Published as NM_001131025.1:c.1669C>T
ISCN -
DB-ID PEX5_000025
Variant remarks low genotype/phenotype correlation
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
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     
PEX5 NM_000319.4 +/. - c.1645C>T r.(?) p.(Arg549Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275309 DNA SEQ;SEQ-NG - WES PEX5 2 Johan den Dunnen