Genomic variant #0000132367

Individual ID 00081560
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(100629623_?)_(?_100630131)[ins72]
DNA change (hg38) -
Published as 72 bp insertion between exons 2 and 3, IFinsL47 + 24
ISCN -
DB-ID BTK_000889
Variant remarks predicted to create an in-frame insertion of 24
amino acids after L47 (IFiL47 + 24) in the PH domain
Reference PubMed: Garcia-Garcia 2016, IDbase_AccNr: A1855
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Qing Wang




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     
BTK NM_000061.2 +?/. 2i c.(141+?)_(142-?)ins(72) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081690 RNA SEQ-NG;PCR - - BTK 2 Qing Wang