Genomic variant #0000132389

Individual ID 00081581
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.100604435_100630302del
DNA change (hg38) g.101349447_101375314del
Published as Ex2-19 del
ISCN -
DB-ID BTK_000883
Variant remarks Deletion of exon 2 to exon 19
Reference PubMed: Aadam 2016, IDbase_AccNr: A1573
ClinVar ID -
dbSNP ID -
Origin Unknown
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 +?/. 2_19 c.-30_*438del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081711 DNA PCR;SEQ - - BTK 1 Qing Wang