Genomic variant #0000083240

Individual ID 00053352
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100630174_100630186del
DNA change (hg38) g.101375186_101375198del
Published as -
ISCN -
DB-ID BTK_000067
Variant remarks -
Reference PubMed: Toth, B 2009, IDbase_AccNr: A1371
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 Gerard C.P. Schaafsma
Options




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     

Codon change     
BTK NM_000061.2 +?/. 2 c.89_101del r.(?) p.(Phe30CysfsTer23) DNA deletion (VariO:0141) - missing protein (VariO:0240) PH - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000053299 DNA;DNA ? - - BTK 1 Gerard C.P. Schaafsma