Individual #00227777

ID_report -
Reference PubMed: Moretti 2005
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name LOVD
Database submission license No license selected
Created by Hirotomo Saitsu
Date created 2011-09-04 05:05:51 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000171799 Neonatal epilepsy - hypotonia, developmental delay and regression, ataxia, and autistic features - - - - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000228866 DNA arrayCGH - - STXBP1 1 LOVD



Variants

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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     
9 Parent #1 +/+ - pathogenic g.130374486_130420730del - - - STXBP1_000035 deletion 47-86 kb Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Boone 2010 - - De novo - - - - - LOVD STXBP1 - - - - 1_4i NM_003165.3:c.(?_-197)_(246+1_247-1)del - r.0? p.0? - - - - - - - - - - - - - -
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