Individual #00000780

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


Phenotypes

Alpha-thalassemia Mental Retardation Syndrome (ATRX)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000300 Frontal cowlick with mild synophyrys, Prominent left epicanthic fold, a short nose with anteverted nares, Smooth philtrum with relative microstomia Small, low-set and anteriorly rotated ears, Short fingers with normal nails, Bilateral congenital talipes equinovarus and Bifid scrotum with bilateral undescended testes - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000874 DNA DHPLC;PCR;SEQ ATRX 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.270438C>T - DOI:Zarina A. Latiff et al.(2013):10.3233/JPN-120598 ATRX_000001 rs122445099 - - Nur Aisyah Athirah ATRX - NM_000489.6:c.7156C>T C7156T r.(?) p.(Arg2386*) - Pathogenic
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