Individual #00000744

Reference Nur Farrah Dila Ismail et al.(2014)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases TSC
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Tuberous sclerosis complex (TSC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000279 Cortical tuber over the left frontal lobe and multiple small subependymal nodules along both lateral ventricle walls as well as both Foramen Monroe, has left subependymal giant cell astrocytoma, multiple subependymal hamartomas, cortical, subcortical and white matters tubers. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000838 DNA MLPA TSC2 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     

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Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
16 Unknown +/. g.39390_44305del g.del_ex32-41; c.3887-5404del1516bp; p.A1295X Nur Farrah Dila Ismail et al.(2014) TSC2_000021 - - - Nur Aisyah Athirah TSC2 32-41 NM_000548.4:c.3884_5424del - r.? p.? - -
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