Variant #0000003194 (NC_000023.11:g.101353334T>A, NM_000061.2:c.1768A>T (BTK))

Individual ID 00000832
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101353334T>A
Published as c.1888A>T
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID BTK_000007
dbSNP ID rs186935027
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 12:12:45 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
BTK NM_000061.2 ?/. - c.1768A>T c.1888A>T r.(?) p.(Ile590Phe) -
BTK NM_001287344.1 ?/. - c.1870A>T c.1888A>T r.(?) p.(Ile624Phe) -
BTK NM_001287345.1 ?/. - c.1240A>T c.1888A>T r.(?) p.(Ile414Phe) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000945 DNA ? BTK 4 Noorzalifah Binti Mazuki