Individual #00000555

Reference Chai Teng Chear et al.(2021)
Gender M
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases XLA
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

X-linked agammaglobulinemia (XLA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000192 perianal swelling associated with pus discharge, recurrent upper respiratory tract infections, left thigh swelling with abscesses - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000606 DNA PCR;SEQ BTK 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.101354680_101354681del - Chai Teng Chear et al.(2021) BTK_000006 rs118203550 - - Nur Aisyah Athirah BTK 16 NM_000061.2:c.1580_1581del - r.(?) p.(Cys527Phefs*9) - -
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