Individual #00250190

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MTDPS1
Owner name Kimberly Kripps
Database submission license No license selected
Created by Kimberly Kripps
Date created 2019-08-02 21:28:08 +02:00 (CEST)
Date last edited 2019-08-05 08:56:53 +02:00 (CEST)


Phenotypes

mitochondrial DNA depletion syndrome, type 1 (MTDPS-1, MNGIE type) (MTDPS1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000188754 demyelinating neuropathy, liver cirrhosis, gastric dysmotility - MNGIE Familial, autosomal recessive - 22y - 14y Thymidine Phosphorylase Kimberly Kripps



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000251297 DNA SEQ - - TYMP 1 Kimberly Kripps



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     

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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     
22 Both (homozygous) +/. - pathogenic (recessive) g.50967768C>G g.50529339C>G - - TYMP_000001 - - - - Germline/De novo (untested) - - - - - Kimberly Kripps TYMP - - - - - NM_001257988.1:c.215-1G>C - r.spl? p.? - - - - - - - - - - - - - -
Legend   How to query  


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