Screening #0000016859

Individual ID 00016890
Template DNA
Technique arraySNP;SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Marianne Vos (LOVD-team)


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
USP9X ubiquitin specific peptidase 9, X-linked X p11.4 1 104 85 2019-07-12 MRX-99



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
6 Unknown +/. g.(156740000_157099063)_(157529026_157890000)del - - - ARID1B_000090 probably de novo ~790 kb deletion 6q25.3 PubMed: Homan 2014 - - De novo - - - 0 - Johan den Dunnen ARID1B - - - - - _1_20_ NM_020732.3:c.(?_-1)_(*8_?)del - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) +?/. g.41078388C>A g.41219135C>A - - USP9X_000048 - PubMed: Homan 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team) USP9X - - - - - 38 NM_001039590.2:c.6469C>A - - r.(?) p.(Leu2157Ile) - - - - - - - - - - - - - - - - - - -
Legend