BTK Bruton tyrosine kinase

Information
Symbol
BTK
Type
protein-coding
Description
Bruton tyrosine kinase
Entrez Gene ID
695
Genome
hg19
Position
chrX:100,604,435-100,645,784
Genome
hg38
Position
chrX:101,349,447-101,390,796
MIM
300300 OMIM
HGNC
HGNC:1133 HGNC
Ensembl
ENSG00000010671 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 231 416
Likely pathogenic 0 172
Benign 0 136
Likely benign 0 348
Conflicting classifications of pathogenicity 0 36
not provided 38 0
Uncertain significance 1 282
Ranking
ClinVar
0
0
122
1,102
94
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AGMX1
SYNONYM AT
SYNONYM ATK
SYNONYM BPK
SYNONYM IGHD3
SYNONYM IMD1
SYNONYM PSCTK1
SYNONYM XLA
MIM 300300 OMIM
HGNC HGNC:1133 HGNC
Ensembl ENSG00000010671 Ensembl
AllianceGenome HGNC:1133
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000695614.1 hg38 chrX 101,349,338 101,386,180 36,843
ENST00000695615.1 hg38 chrX 101,349,338 101,386,182 36,845
ENST00000695617.1 hg38 chrX 101,349,338 101,386,186 36,849
ENST00000695625.1 hg38 chrX 101,349,553 101,386,183 36,631
ENST00000695622.1 hg38 chrX 101,349,453 101,386,183 36,731
ENST00000695623.1 hg38 chrX 101,349,453 101,386,183 36,731
ENST00000621635.4 hg38 chrX 101,349,447 101,390,796 41,350
ENST00000308731.8 hg38 chrX 101,349,450 101,386,191 36,742
ENST00000703407.1 hg38 chrX 101,349,447 101,386,179 36,733
ENST00000695614.1 hg19 chrX 100,604,326 100,641,168 36,843
ENST00000695615.1 hg19 chrX 100,604,326 100,641,170 36,845
ENST00000308731.8 hg19 chrX 100,604,438 100,641,179 36,742
ENST00000621635.4 hg19 chrX 100,604,435 100,645,784 41,350
ENST00000695622.1 hg19 chrX 100,604,441 100,641,171 36,731
ENST00000695623.1 hg19 chrX 100,604,441 100,641,171 36,731
ENST00000695617.1 hg19 chrX 100,604,326 100,641,174 36,849
ENST00000695625.1 hg19 chrX 100,604,541 100,641,171 36,631
ENST00000703407.1 hg19 chrX 100,604,435 100,641,167 36,733
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