Variant #0000686239 (NC_000006.11:g.143792713dup, PEX3(NM_003630.2):c.543dup)

Individual ID 00309914
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.143792713dup
DNA change (hg38) -
Published as 543_544insT
ISCN -
DB-ID PEX3_000001
Variant remarks -
Reference PubMed: Muntau 2000, PubMed: Shimozawa 2000, PubMed: South 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nancy Braverman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX3 NM_003630.2 +/. - c.543dup r.(?) p.(Val182Cysfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311061 DNA;RNA RT-PCR;SEQ - - PEX3 1 Nancy Braverman