Individual #00000507

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
Date created 2021-03-14 09:32:07 +08:00 (CST)
Date last edited 2021-08-01 13:23:34 +08:00 (CST)


Phenotypes

Duchenne muscular dystrophy (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000165 DMD, Waddling gait, Muscle weakness more of lower limbs, no tendons response - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000554 DNA MLPA DMD 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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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.31478221T>C - Abdul Qawee Rani et al.(2013)dbSNP DMD_000003 rs1800280 1/35 - Nur Aisyah Athirah DMD 59 NM_004009.3:c.8810A>G - r.(?) p.(Glu2937Gly) - ClinVar
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