Individual #00208924

ID_report -
Reference PubMed: Moreira 2001
Remarks 2-generation family, unaffected parents
Gender -
Consanguinity -
Country Portugal
Population Portuguese
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases EAOH
Owner name Sergio Piñeiro


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     
0000157531 typical AOA1 phenotype + marked dystonia and masklike faces Ataxia-ocular apraxia type 1 EAOH Unknown - - - - - Sergio Piñeiro



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209979 DNA SEQ blood - APTX 3 Sergio Piñeiro



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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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     

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Predict/AGVGD     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
9 Maternal (confirmed) -/- g.32974571del - 771-11delT - APTX_000028 - PubMed: Moreira 2001 - - Germline - - - 0 - Rick van Minkelen APTX - - - - - 7i NM_175073.2:c.771-12del - benign r.(?) p.? - - - - - - - - - - - - - - - - - - -
9 Paternal (confirmed) +/+ g.32984803C>T - - - APTX_000006 no maternal variant identified PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro APTX - - - - - 7 NM_175073.2:c.596G>A - pathogenic (recessive) r.(?) p.(Arg199His) - - - - - - - - - - - - - - - - - - -
9 Maternal (confirmed) -/- g.32986034_32986053del - 484-31_484-12del20 - APTX_000027 - PubMed: Moreira 2001 - - Germline - - - 0 - Rick van Minkelen APTX - - - - - 5i NM_175073.2:c.484-25_484-6del - benign r.(?) p.? - - - - - - - - - - - - - - - - - - -
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