Variant #0000003019 (NC_000023.11:g.101360087C>G, NC_000023.11(NM_000061.2):c.839+1G>C (BTK))

Individual ID 00000757
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101360087C>G
Published as -
Reference Hoda Mirsafian et al.(2017)
DB-ID BTK_000004
dbSNP ID rs1060499976
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 10:10:14 +08:00 (CST)
Date last edited 2021-09-13 12:17:58 +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 +/. 9i c.839+1G>C IVS9+1G>C r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000851 RNA SEQ BTK 1 Nur Aisyah Athirah