Genomic variant #0000036833

Individual ID 00016919
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.41025143T>A
DNA change (hg38) g.41165890T>A
Published as 1983T>A (G661G)
ISCN -
DB-ID USP9X_000001 See all 2 reported entries
Variant remarks recurrent, found 4 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 4/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00229 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USP9X NM_001039590.2 ?/? 16 c.2004T>A - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016890 DNA SEQ ? - USP9X 1 Lucy Raymond