Variant #0000394058 (NC_000023.10:g.132161883_132161885dup, USP26(NM_031907.1):c.367_369dup)

Individual ID 00172936
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.132161883_132161885dup
DNA change (hg38) g.133027855_133027857dup
Published as -
ISCN -
DB-ID USP26_000016
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lucy Raymond
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     
USP26 NM_031907.1 ?/. - c.367_369dup r.(?) p.(Thr123dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173819 DNA SEQ - - GPR174 1 Lucy Raymond