Individual #00000668

Reference F L Yong et al.(2015)
Gender F
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000735 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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