Individual #00208981

ID_report 15365154-Fam3
Reference PubMed: Amouri 2004
Remarks family, 4 affected (2F, 2M), unaffected parents
Gender F;M
Consanguinity -
Country Tunisia
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases EAOH
Owner name Johan den Dunnen


Phenotypes

ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (EAOH) (EAOH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

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Phenotype/Onset     

Protein     

Owner     
0000157588 see paper; ... early onset cerebellar ataxia associated with oculomotor apraxia EAOH Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210036 DNA SEQ - - APTX 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     

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Reference     

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dbSNP ID     

Origin     

Segregation     

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Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

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VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Both (homozygous) +/. g.32973651C>T - - - APTX_000085 - PubMed: Amouri 2004 - - Germline yes - - 0 - Johan den Dunnen APTX - - - - - 8i NM_175073.2:c.875-1G>A - pathogenic (recessive) r.spl p.? - - - - - - - - - - - - - - - - - - -
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