Variant #0000003214 (NC_000023.11:g.101349887A>C, NM_000061.2:c.1978T>G (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.101349887A>C
Published as -
Reference Intan Juliana Abd Hamid et al. (2020)
DB-ID BTK_000010
dbSNP ID rs1085307927
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 2021-08-11 16:06:10 +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.1978T>G - r.(?) p.(*660Glyext*4) ClinVar
BTK NM_001287344.1 ?/. - c.2080T>G - r.(?) p.(*694Glyext*4) ClinVar
BTK NM_001287345.1 ?/. - c.1450T>G - r.(?) p.(*484Glyext*4) ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000945 DNA ? BTK 4 Noorzalifah Binti Mazuki