Variant #0000084263 (NC_000023.10:g.100622607_100637002dup, NC_000023.10(NM_000061.2):c.-31+4069_391+2400dup (BTK))

Individual ID 00054375
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.100622607_100637002dup
DNA change (hg38) g.101367619_101382014dup
Published as -
ISCN -
DB-ID BTK_000645 See all 2 reported entries
Variant remarks mother is carrier
Reference PubMed: Kristufek, D 2007, IDbase_AccNr: A1226
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 2008-04-24 00:00:00 +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 +/+ 1i_5i c.-31+4069_391+2400dup r.0 p.0 DNA insertion (VariO:0142) RNA splicing change (VariO:0334);missing RNA (VariO:0245) missing protein (VariO:0240) PH absent - - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000054322 DNA;RNA ?;RT-PCR;SEQ-NG blood - BTK 1 Gerard C.P. Schaafsma


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