Individual #00016891

ID_report -
Reference PubMed: Homan 2014
Remarks 2-generation family, 2 affected halfbrothers/uncle, unaffected heterozygous carrier mother/grandmother
Gender M
Consanguinity ?
Country United Kingdom (Great Britain)
Population (British)
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases ID
Owner name Marianne Vos (LOVD-team)


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Birth_Details     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Intellectual_dis     

Speech     

Development     

Protein     

Owner     
0000015269 - - Familial, X-linked dominant ? - - - - 3/3 mild/moderate ID, 1/3 obessiveness, 1/3 autism, 3/3 hypotonia, - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016860 DNA SEQ - - USP9X 1 Marianne Vos (LOVD-team)



Variants

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 (confirmed) +/. g.41089848delA g.41230595delA - - USP9X_000049 - PubMed: Homan 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team) USP9X - - - - - 44 NM_001039590.2:c.7574delA - - r.(?) p.(Gln2525Argfs*18) - - - - - - - - - - - - - - - - - - -
Legend