Individual #00435247

ID_report patient
Reference IRCCS Policlinico San Donato, S. Donato Milanese (MI), Milano, Italy
Remarks -
Gender F
Consanguinity no
Country (Italy)
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 37
Diseases BRGDA1
Owner name Emanuele Micaglio
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Emanuele Micaglio
Date created 2023-06-21 19:18:23 +02:00 (CEST)
Date last edited 2023-06-26 09:47:08 +02:00 (CEST)


Phenotypes

Brugada syndrome, type 1 (BRGDA-1) (BRGDA1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000325443 Brugada syndrome Familial, autosomal dominant 30 type 1 Brugada syndrome 30y 22y positive Ajmaline challenge Deep vein lower limb thrombosis Ala344Ser Emanuele Micaglio



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000436727 DNA SEQ-NG-I peripheral blood - SCN5A 1 Emanuele Micaglio



Variants

1 entry on 1 page. Showing entry 1.
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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     
3 Maternal (confirmed) +?/. ACMG VUS g.38648270C>A g.38606779C>A - - SCN5A_001506 - - - rs1372770367 Germline yes 1/278734 - - - Emanuele Micaglio SCN5A - - - - - NM_198056.2:c.1030G>T - r.(?) p.(Ala344Ser) - - - - - - - - - - - - - -
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