Variant #0000900475 (NC_000023.10:g.100622527_100631519del, NC_000023.10(NM_000061.2):c.-30-1217_391+2459del (BTK))

Individual ID 00423125
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.100622527_100631519del
DNA change (hg38) g.101367539_101376531del
Published as -
ISCN -
DB-ID BTK_001064
Variant remarks -
Reference PubMed: Zhou 2022
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 N/A
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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.-30-1217_391+2459del r.(0) p.(0) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321);missing RNA (VariO:0245) missing protein (VariO:0240) - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000424435 DNA SEQ - - BTK 1 Mauno Vihinen


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