Genomic variant #0000036785

Individual ID 00016890
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.41078388C>A
DNA change (hg38) g.41219135C>A
Published as -
ISCN -
DB-ID USP9X_000048
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 +?/. 38 c.6469C>A - r.(?) p.(Leu2157Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016859 DNA arraySNP;SEQ - - USP9X 2 Marianne Vos (LOVD-team)