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KIT M541L
genetic variant
MET541LEU
M541L
RS3822214
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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/201
chromosome
human chromosome 4
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
genomic start
55593464
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
genomic end
55593464
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
biological variant of
KIT
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
positive therapeutic predictor for
imatinib
medical condition treated
chronic leukemia
determination method
CIViC evidence level C
rating
CIViC 2-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1423
stated in
Identification of kit(M541L) somatic mutation in chronic eosinophilic leukemia, not otherwise specified and its implication in low-dose imatinib response
positive diagnostic predictor for
chronic myeloid leukemia
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
statement disputed by
The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/485
stated in
The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians
negative diagnostic predictor for
chronic myeloid leukemia
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
statement disputed by
The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians
1 reference
curator
CIViC database
retrieved
24 February 2020
reference URL
https://civic.genome.wustl.edu/links/evidence/485
stated in
The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians
Identifiers
CIViC variant ID
201
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
dbSNP Reference SNP number
rs3822214
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000222.2:c.1621A>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
NP_000213.1:p.Met541Leu
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
ENST00000288135.5:c.1621A>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
NC_000004.11:g.55593464A>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/201
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