Individual #00208961

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EAOH
Owner name Rick van Minkelen


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000157568 oculomotor apraxia, nystagmus (no further details given by physician) Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Rick van Minkelen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210016 DNA SEQ blood - APTX 1 Rick van Minkelen



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     

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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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Unknown -?/-? g.32987594G>T - - - APTX_000035 probably not pathogenic - - - Germline - - - 0 - Rick van Minkelen APTX - - - - - 5 NM_175073.2:c.431C>A - likely benign r.(?) p.(Ser144Tyr) - - - - - - - - - - - - - - - - - - -
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