Variant #0000629339 (NC_000012.11:g.7362698C>T, PEX5(NM_000319.4):c.1775C>T)

Individual ID 00274154
Chromosome 12
Allele Paternal (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.7362698C>T
DNA change (hg38) g.7210102C>T
Published as NM_001131025.1:c.1799C>T
ISCN -
DB-ID PEX5_000026
Variant remarks -
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) 0 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.1775C>T r.(?) p.(Ser592Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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