Variant #0000394060 (NC_000023.10:g.132161673C>T, USP26(NM_031907.1):c.576G>A)

Individual ID 00172938
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.132161673C>T
DNA change (hg38) g.133027645C>T
Published as E192E
ISCN -
DB-ID USP26_000001 See all 3 reported entries
Variant remarks recurrent, found 72 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 72/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.39827 View details
Owner Lucy Raymond
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     
USP26 NM_031907.1 ?/. - c.576G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173821 DNA SEQ - - GPR174 1 Lucy Raymond