Individual #00000612

Reference Ernie Zuraida Ali et al.(2013)
Gender F
Geographic origin (Kuala Lumpur)
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MSUD
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     
0000000678 DNA PCR;SEQ BCKDHA 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
19 Unknown +/. g.41414104G>T - Ernie Zuraida Ali et al.(2013) BCKDHA_000003 rs398124652 - - Nur Aisyah Athirah BCKDHA 4 NM_000709.3:c.431G>T - r.(?) p.(Ser144Ile) - -
Legend   How to query