Individual #00000511

Reference Abdul Qawee Rani et al.(2013)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases DMD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Duchenne muscular dystrophy (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000171 DMD, Bed-ridden, Muscle weakness - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000558 DNA MLPA DMD 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     
X Unknown +/. g.32364626C>A - Abdul Qawee Rani et al.(2013) DMD_000008 rs765445866 1/35 - Nur Aisyah Athirah DMD - NM_004010.3:c.4741G>T - r.(?) p.(Glu1581*) - Pathogenic
X Unknown +/. g.32380601delT - Abdul Qawee Rani et al.(2013) DMD_000009 - 1/35 - Nur Aisyah Athirah DMD - NM_004009.3:c.4742delA - r.(?) p.(Glu1581Aspfs*10) - -
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