Individual #00107795

ID_report -
Reference PubMed: Tuschl 2012
Remarks Age at presentation: 2y
Gender F
Consanguinity yes
Country Yemen
Population Arabic
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HMNDYT1
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2012-05-25 11:32:27 +02:00 (CEST)
Date last edited N/A


Phenotypes

Hypermanganesemia with dystonia 1 (HMNDYT1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000085558 dystonia; Hypermanganesemia - - Familial, autosomal recessive 08y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108266 DNA SEQ-NG - - SLC30A10 1 Johan den Dunnen



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     
1 Both (homozygous) +/. - pathogenic g.220101517A>G g.219928175A>G - - SLC30A10_000002 Not in 200 control chromosomes PubMed: Tuschl 2012 - - Germline - - MnlI- - - Johan den Dunnen SLC30A10 - - - - 1 NM_018713.2:c.266T>C - r.(?) p.(Leu89Pro) - - - - - - - - - - - - - -
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