Variant #0000132422 (NC_000023.10:g.100629525_100641213del, NM_000061.2:c.-193_240del (BTK))

Individual ID 00081614
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100629525_100641213del
DNA change (hg38) g.101374537_101386225del
Published as -
ISCN -
DB-ID BTK_000777
Variant remarks Deletion of exon 1 to exon 3
Reference PubMed: Singh 2016, IDbase_AccNr: A1609
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Qing Wang
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Qing Wang
Date created 2016-10-06 13:12:45 +02:00 (CEST)
Date last edited 2021-07-01 08:54:06 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 +/+ 1_3 c.-193_240del r.spl p.? DNA deletion (VariO:0141) - - PH - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081744 DNA ? - - BTK 1 Qing Wang


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