Variant #0000003196 (NC_000023.11:g.101358687C>G, NM_000061.2:c.904G>C (BTK))

Individual ID 00000832
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101358687C>G
Published as g. IVS9+1G>C
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID BTK_000009
dbSNP ID rs148591292
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 12:34:50 +08:00 (CST)
Date last edited 2022-01-25 09:34:50 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
BTK NM_000061.2 +/. - c.904G>C g. IVS9+1G>C r.(?) p.(Gly302Arg) -
BTK NM_001287344.1 +/. - c.1006G>C g. IVS9+1G>C r.(?) p.(Gly336Arg) -
BTK NM_001287345.1 +/. - c.904G>C g. IVS9+1G>C r.(?) p.(Gly302Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000945 DNA ? BTK 4 Noorzalifah Binti Mazuki