Variant #0000900389 (NC_000023.10:g.100641049C>T, NC_000023.10(NM_000061.2):c.-31+1G>A (BTK))

Individual ID 00423039
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.100641049C>T
DNA change (hg38) g.101386061C>T
Published as -
ISCN -
DB-ID BTK_000305 See all 4 reported entries
Variant remarks -
Reference PubMed: Rawat 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mauno Vihinen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-11-11 11:14:58 +01:00 (CET)
Date last edited 2022-12-13 09:04:50 +01:00 (CET)
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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 c.-31+1G>A r.spl p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) RNA splicing change (VariO:0334) - - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000424349 DNA SEQ - - BTK 1 Mauno Vihinen


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