Variant #0000003018 (NC_000023.11:g.101353214T>A, NM_000061.2:c.1888A>T (BTK))

Individual ID 00000756
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101353214T>A
Published as -
Reference Hoda Mirsafian et al.(2017)
DB-ID BTK_000003
dbSNP ID rs1064794904
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 10:06:13 +08:00 (CST)
Date last edited 2021-08-01 13:20:31 +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.1888A>T - r.(?) p.(Met630Leu) Likely pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000850 RNA SEQ BTK 1 Nur Aisyah Athirah