Variant #0000130325 (NC_000023.10:g.(?_100608182)_(100608976_?)del, NM_000061.2:c.(1632-?)_(1908+?)del (BTK))

Individual ID 00081124
Chromosome X
Allele Maternal (confirmed)
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.(?_100608182)_(100608976_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTK_000828
Variant remarks large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier
Reference PubMed: Haire, R. N (1997); IDbase_AccNr: A0287
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Dr. Gary W. Litman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2016-09-13 16:22:29 +02:00 (CEST)
Date last edited 2021-05-24 11:04:09 +02:00 (CEST)
Options




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 +/+ - c.(1632-?)_(1908+?)del r.? p.? DNA deletion (VariO:0141) - - TK - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081236 DNA ? - - BTK 1 Dr. Gary W. Litman


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