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
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