Individual #00205913

ID_report -
Reference Brems et al, 2012
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LGSS
Owner name Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen
Date created 2014-08-29 17:44:01 +02:00 (CEST)
Date last edited N/A


Phenotypes

Legius syndrome (LGSS) (LGSS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000154054 >6 CALMs / freckling - - Isolated (sporadic) - 34y - - - Ludwine Messiaen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206943 DNA;RNA SEQ;SEQ blood - SPRED1 1 Ludwine Messiaen



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     
15 Unknown +/+ - pathogenic g.38591593C>T g.38299392C>T - - SPRED1_000012 Domain: EVH-1 PubMed: Messiaen 2009 - - De novo - - - - - Ludwine Messiaen SPRED1 - - - - 2 NM_152594.2:c.52C>T - r.52c>u p.Arg18* - - - - - - - - - - - - - -
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