Individual #00034411

ID_report -
Reference PubMed: Zhang 2004, Journal: Zhang 2004
Remarks -
Gender M
Consanguinity no
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases AHC, GKD, MRX
Owner name Johan den Dunnen


Phenotypes

mental retardation, X-linked (MRX, intellectual disability (IDX)) (MRX;IDX)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Birth_Details     

Protein     

Owner     
0000028024 - - - Isolated (sporadic) - - - - - - Johan den Dunnen

adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism) (AHC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Protein     

Owner     
0000028022 - - - Isolated (sporadic) - - - - - Johan den Dunnen

deficiency, glycerol kinase (GKD) (GKD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

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Protein     

Owner     
0000028023 - - - Isolated (sporadic) - - - - - Johan den Dunnen

dystrophy, muscular, Duchenne type (DMD) (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092798 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034478 DNA PCR - - ARX, DMD, GK, IL1RAPL1, NR0B1 1 Johan den Dunnen



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 Unknown +/+ g.(?_25020000)_(32235181_32305645)del - - - DMD_003417 deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen ARX, DMD, GK, IL1RAPL1, NR0B1 - - - - - _1_5_, 43i_79_, _1_21_, _1_11_, _1_2_ NM_139058.2:c.0, NM_004006.2:c.(6290+1_6291-1)_(*1_?)del, NM_001205019.1:c.0, NM_014271.3:c.0, NM_000475.4:c.0 - pathogenic, pathogenic (recessive), r.(6291_*2691del), r.0 p.?, p.0 - - - - - - - - - - - - - - - - - - -
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