Variant #0000686372 (NC_000012.11:g.7361150C>T, PEX5(NM_000319.4):c.1255C>T)

Individual ID 00309936
Chromosome 12
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.7361150C>T
DNA change (hg38) -
Published as 1168C>T (R390X)
ISCN -
DB-ID PEX5_000003
Variant remarks -
Reference PubMed: Dodt 1995, PubMed: Shimozawa 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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     
PEX5 NM_000319.4 +/. 12 c.1255C>T r.1255c>u p.Arg419*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311084 DNA;RNA RT-PCR;SEQ - - PEX5 1 Nancy Braverman