Genomic variant #0000406035

Individual ID 00181203
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40999981A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID USP9X_000085
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner Karine Poirier




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
USP9X NM_001039590.2 ?/. - c.727A>G VUS r.(?) p.(Asn243Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182161 DNA SEQ-NG blood - ATP2B3, GPR112, NNAT, USP9X 4 Karine Poirier