Variant #0000089087 (NC_000023.10:g.(?_100641212)_100608911del, NM_000061.2:c.(?_-57)_1696del (BTK))

Individual ID 00058543
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.(?_100641212)_100608911del
DNA change (hg38) -
Published as 5'UTR-C1828
ISCN -
DB-ID BTK_000897
Variant remarks The 5'-terminal half of the cDNA was not amplified, suggesting a large deletion
Reference PubMed: Hashimoto et al 1996, IDbase_AccNr: A0324
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 1996-08-19 00:00:00 +02:00 (CEST)
Date last edited 2021-05-24 11:03:23 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 +/+ - c.(?_-57)_1696del r.? p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000058508 DNA RT-PCR;SEQ;SSCA;Western - - BTK 1 Gerard C.P. Schaafsma


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