Variant #0000084504 (NC_000023.10:g.(?_100641212)_(100604435_?)del, NM_000061.2:c.(?_-193)_(*438_?)del (BTK))

Individual ID 00054616
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)_(100604435_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTK_000891 See all 4 reported entries
Variant remarks Large undefined deletion
Reference PubMed: Vetrie 1993, IDbase_AccNr: A0005
ClinVar ID -
dbSNP ID -
Origin Germline
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 2015-10-23 11:09:15 +02:00 (CEST)
Date last edited 2021-05-06 15:22:25 +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_19_ c.(?_-193)_(*438_?)del r.0 p.0 DNA deletion (VariO:0141) missing RNA (VariO:0245) missing protein (VariO:0240) PH; TH; SH3; SH2; TK - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054563 DNA ? - - - 1 Gerard C.P. Schaafsma


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