Individual #00000510

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     
0000000169 DMD, Tip-toe walking, Calf hypertrophy, lumbar lordosis, and hypotonic lower limbs - Nur Aisyah Athirah
0000000170 DMD - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000557 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.31178721G>A - Abdul Qawee Rani et al.(2013)dbSNP DMD_000007 rs398123832 1/35 - Nur Aisyah Athirah DMD 70 NM_004006.3:c.10171C>T - r.(?) p.(Arg3391*) - ClinVar
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