Variant #0000150189 (NC_000023.10:g.100630273_100630277del, NM_000061.2:c.-4_1del (BTK))

Individual ID 00091816
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100630273_100630277del
DNA change (hg38) g.101375285_101375289del
Published as 128_133delAAGCT
ISCN -
DB-ID BTK_000830
Variant remarks -
Reference PubMed: Chen XF, 2016, IDbase_AccNr: A1803
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Qing Wang
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Qing Wang
Date created 2016-12-15 22:34:29 +01:00 (CET)
Date last edited 2021-04-23 10:49:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     
BTK NM_000061.2 +/+ 2 c.-4_1del r.? p.? DNA deletion (VariO:0141) - - - - - - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000091958 DNA PCR;SEQ - - BTK 1 Qing Wang


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