Individual #00000222

Reference Ernie Zuraida Ali et al. (2018)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MSUD
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud


Phenotypes

maple syrup urine disease (MSUD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000108 - Familial, autosomal recessive Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000237 DNA PCR;SEQ BCKDHB 1 Nuur Athirah Binti Mohd Daud



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     
6 Unknown +/. g.80129187G>A G101S Ernie Zuraida Ali et al. (2018), ClinVar BCKDHB_000011 - 1 - Nuur Athirah Binti Mohd Daud BCKDHB 3 NM_183050.3:c.301G>A - r.(?) p.(Gly101Ser) - -
Legend   How to query