Variant #0000002543 (NC_000023.11:g.101354680_101354681del, NM_000061.2:c.1580_1581del (BTK))

Individual ID 00000555
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101354680_101354681del
Published as -
Reference Chai Teng Chear et al.(2021)
DB-ID BTK_000006
dbSNP ID rs118203550
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 2021-04-01 11:08:30 +08:00 (CST)
Date last edited 2021-09-13 12:14:34 +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 +/. 16 c.1580_1581del - r.(?) p.(Cys527Phefs*9) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000606 DNA PCR;SEQ BTK 1 Nur Aisyah Athirah