Individual #00000450

Reference Sow Kuan Tee et al. (2019)
Gender M
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases LD
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 2021-02-23 11:53:32 +08:00 (CST)
Date last edited 2021-08-01 13:04:47 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000489 DNA arrayCGH EPM2A 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     
6 Both (homozygous) +/. g.145627654T>A - Sow Kuan Tee et al.(2019) EPM2A_000001 rs749937487 - - Nur Aisyah Athirah EPM2A , 4 NM_001018041.1:c.758A>T, NM_005670.3:c.758A>T, XM_011536116.1:c.344A>T - r.(?) p.(His253Leu), p.(His115Leu) - Uncertain significance
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