Individual #00016889

ID_report -
Reference PubMed: Homan 2014
Remarks 2-generation family, 1 affected, unaffected non-carrier parents
Gender M
Consanguinity ?
Country France
Population (France)
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
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     

Phenotype details     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000015267 - - Familial, X-linked dominant 21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin. 01y09m - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016858 DNA SEQ - - USP9X 1 Marianne Vos (LOVD-team)



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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 Unknown +?/. - - g.41077693T>A g.41218440T>A - - USP9X_000047 - PubMed: Homan 2014 - - De novo yes - - 0 - Marianne Vos (LOVD-team) USP9X - - - - - 37 NM_001039590.2:c.6278T>A - r.(?) p.(Leu2093His) - - - - - - - - - - - - - - - - - - -
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