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BTK C481S
genetic variant
C481S
CYS481SER
RS1057519826
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No description defined
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
chromosome
human X chromosome
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
genomic start
100611165
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
genomic end
100611165
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
biological variant of
BTK
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
negative therapeutic predictor for
ibrutinib
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
medical condition treated
chronic lymphocytic leukemia
2 references
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/436
stated in
Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1770
stated in
Etiology of Ibrutinib Therapy Discontinuation and Outcomes in Patients With Chronic Lymphocytic Leukemia
Identifiers
CIViC variant ID
168
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
dbSNP Reference SNP number
rs1057519826
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000023.10:g.100611165A>T
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
ENST00000308731.7:c.1441T>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
NM_000061.2:c.1441T>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
NP_000052.1:p.Cys481Ser
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/168
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