Variant #0000686465 (NC_000001.10:g.2338020_2338021del, PEX10(NM_153818.1):c.874_875del)

Individual ID 00310015
Chromosome 1
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.2338020_2338021del
DNA change (hg38) -
Published as 814_815delCT
ISCN -
DB-ID PEX10_000009 See all 13 reported entries
Variant remarks -
Reference PubMed: Warren 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-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     
PEX10 NM_153818.1 +/. 5 c.874_875del r.874_875del p.Leu292Valfs*66



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311163 DNA;RNA RT-PCR;SEQ - - PEX10 1 Nancy Braverman