Genomic variant #0000036786

Individual ID 00016891
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41089848delA
DNA change (hg38) g.41230595delA
Published as -
ISCN -
DB-ID USP9X_000049
Variant remarks -
Reference PubMed: Homan 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USP9X NM_001039590.2 +/. 44 c.7574delA - r.(?) p.(Gln2525Argfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016860 DNA SEQ - - USP9X 1 Marianne Vos (LOVD-team)