Variant #0000406002 (NC_000023.10:g.132160273G>A, USP26(NM_031907.1):c.1976C>T)

Individual ID 00177015
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.132160273G>A
DNA change (hg38) g.133026245G>A
Published as -
ISCN -
DB-ID USP26_000008
Variant remarks -
Reference PubMed: Papuc 2019
ClinVar ID -
dbSNP ID rs145695346
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0013 View details
Owner Anaïs Begemann
Database submission license No license selected
Created by Anaïs Begemann
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
USP26 NM_031907.1 -?/. - c.1976C>T r.(?) p.(Thr659Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177907 DNA SEQ-NG-I blood WES - 4 Anaïs Begemann