Individual #00165115

ID_report 28686858-FamM1
Reference PubMed: Seixas 2017
Remarks 4-generation family, 18 affecteds
Gender F;M
Consanguinity -
Country Portugal
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 18
Diseases SCA
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-06-26 22:18:00 +02:00 (CEST)
Date last edited N/A


Phenotypes

ataxia, spinocerebellar (SCA) (SCA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000130012 dysarthria (HP:0001260), ataxia (HP:0001251 ) ataxia, spinocerebellar SCA-37 Familial, autosomal dominant 64y - 30y dysarthria - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165990 DNA PCR;SEQ;Southern - - DAB1 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Paternal (inferred) -?/. - likely benign g.57832649_57833846insN[1935] - ATTTT[~400] - DAB1_000011 - PubMed: Seixas 2017 - - Germline no - - - - Johan den Dunnen DAB1 - - - - 3i NM_021080.3:c.-136-77008_-136-75811ins(1935) - r.(=) p.(=) - - - - - - - - - - - - - -
1 Paternal (inferred) +/. - pathogenic g.57832716_57832790delinsAAAAT[81]GAAAT[60]AAAAT[66] - ATTTT[66]ATTTC[60]ATTTT[81] - DAB1_000012 - PubMed: Seixas 2017 - - Germline yes - - - - Johan den Dunnen DAB1 - - - - 3i NM_021080.3:c.-136-75952_-136-75878delinsATTTT[66]ATTTC[60]ATTTT[81] - r.? p.? - - - - - - - - - - - - - -
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