Variant #0000002230 (NC_000023.11:g.101360084T>C, NC_000023.11(NM_000061.2):c.839+4A>G (BTK))

Individual ID 00000465
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101360084T>C
Published as -
Reference Chai Teng Chear et al.(2014)
DB-ID BTK_000001
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-01 16:56:55 +08:00 (CST)
Date last edited 2021-08-01 13:09:39 +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 +/. 9 c.839+4A>G - r.spl? p.? -
BTK NM_001287344.1 +/. - c.941+4A>G - r.spl? p.? -
BTK NM_001287345.1 +/. - c.839+4A>G - r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000511 DNA PCR BTK 1 Nur Aisyah Athirah