Full data view for gene USP9X

Information The variants shown are described using the NM_001039590.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/? ? c.7505delA - r.(?) p.fs Maternal (confirmed) g.? - OTTHUMT00000056248.1:c.7505delA (Q2502fs*18) - USP9X_000005 description variant is not correct!! PubMed: Tarpey 2009 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 3-generation family, 3 affected males, 2 unaffected carrier females M no - - - 0 - - 1 Johan den Dunnen
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