Variant #0000686352 (NC_000006.11:g.143780305C>T, PEX3(NM_003630.2):c.157C>T)

Individual ID 00309917
Chromosome 6
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.143780305C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID PEX3_000009
Variant remarks -
Reference PubMed: South 2000
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX3 NM_003630.2 +/. - c.157C>T r.157c>u p.Arg53*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311064 DNA;RNA RT-PCR;SEQ - - PEX3 1 Johan den Dunnen