Individual #00165270

ID_report Fam1PatII.1
Reference PubMed: Vanmolkot 2007
Remarks -
Gender M
Consanguinity -
Country United States
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 7
Diseases MGR1
Owner name Paola Carrera
Database submission license No license selected
Created by Paola Carrera
Date created 2010-12-17 12:07:31 +01:00 (CET)
Date last edited 2018-07-05 08:28:32 +02:00 (CEST)


Phenotypes

migraine, susceptibility 1 (MGR-1) (MGR1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000130149 age first HM attack 12y - - - - - - - - Paola Carrera



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000166148 DNA SEQ - - SCN1A 1 Paola Carrera



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     
2 Paternal (inferred) +?/+? - likely pathogenic g.166848839A>T g.165992329A>T - - SCN1A_000001 not in 400 chromosomes; amino acid conserved; in vitro expression study performed PubMed: Vanmolkot 2007 - - Germline - - - - - Paola Carrera SCN1A - - - - 26 NM_001165963.1:c.4946T>A - r.(?) p.(Leu1649Gln) IV S4 - - - - - - - - - - - - -
Legend   How to query  


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