Variant #0000686430 (NC_000022.10:g.18562759C>T, PEX26(NM_017929.5):c.350C>T)

Individual ID 00309989
Chromosome 22
Allele Parent #1
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.18562759C>T
DNA change (hg38) -
Published as 305C>T (P117L)
ISCN -
DB-ID PEX26_000015
Variant remarks -
Reference PubMed: Weller 2005
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 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     
PEX26 NM_017929.5 +/. 3 c.350C>T r.(?) p.(Pro117Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000311137 DNA SEQ - - PEX26 3 Nancy Braverman