Variant #0000003017 (NC_000023.11:g.36712A>G, NM_000061.2:c.*101313173T>C (BTK))

Individual ID 00000755
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.36712A>G
Published as -
Reference Chai Teng Chear et al.(2015)
DB-ID BTK_000002
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 2021-07-05 09:15:22 +08:00 (CST)
Date last edited 2021-08-01 13:20:21 +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 +/. 13 c.*101313173T>C - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000849 DNA PCR;SEQ BTK 1 Nur Aisyah Athirah