Individual #00000670

Reference F L Yong et al.(2015)
Gender M
Geographic origin Sabah
Ethnic origin Bajau
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MNGIE
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000247 Polyneuropathy, ophthalmoplegia, leukoencephalopathy, intestinal pseudo-obstruction, weight loss - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000737 DNA;RNA RT-PCR;SEQ TYMP 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
22 Unknown +/. g.7387C>T - F L Yong et al.(2015) TYMP_000001 rs886039303 - - Nur Aisyah Athirah TYMP 5 NM_001113755.3:c.535C>T - r.(?) p.(Gln179*) - -
22 Unknown +/. g.9279C>T - F L Yong et al.(2015) TYMP_000002 rs11479 - - Nur Aisyah Athirah TYMP 10 NM_001113755.3:c.1412C>T - r.(?) p.(Ser471Leu) - Benign
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