Individual #00000757

Reference Hoda Mirsafian et al.(2017)
Gender -
Geographic origin Malaysia
Ethnic origin -
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
Date created 2021-07-05 10:07:29 +08:00 (CST)
Date last edited 2021-08-01 13:20:47 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000851 RNA SEQ BTK 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.101360087C>G - Hoda Mirsafian et al.(2017) BTK_000004 rs1060499976 - - Nur Aisyah Athirah BTK 9i NM_000061.2:c.839+1G>C IVS9+1G>C r.spl? p.? - -
Legend   How to query