Screening #0000016890

Individual ID 00016919
Template DNA
Technique SEQ
Tissue ?
Remarks -
Variants found? 1
Owner name Lucy Raymond


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

1 entry on 1 page. Showing entry 1.
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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     
X Maternal (inferred) ?/? g.41025143T>A g.41165890T>A 1983T>A (G661G) - USP9X_000001 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline ? 4/208 cases - 0 - Lucy Raymond USP9X - - - - - 16 NM_001039590.2:c.2004T>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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