Genomic variant #0000036845

Individual ID 00016924
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as OTTHUMT00000056248.1:c.7505delA (Q2502fs*18)
ISCN -
DB-ID USP9X_000005 See all 52 reported entries
Variant remarks description variant is not correct!!
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USP9X NM_001039590.2 +?/? ? c.7505delA - r.(?) p.fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016895 DNA SEQ - - USP9X 1 Johan den Dunnen