KIT M541L (Q27828219)

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genetic variant

MET541LEU
M541L
RS3822214

Language	Label	Description	Also known as
English	KIT M541L	genetic variant	MET541LEU M541L RS3822214

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

55593464

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

55593464

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

positive therapeutic predictor for

medical condition treated

chronic leukemia

determination method

CIViC evidence level C

CIViC 2-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/1423

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

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

23 May 2022

https://civic.genome.wustl.edu/links/evidence/485

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

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

24 February 2020

https://civic.genome.wustl.edu/links/evidence/485

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

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000222.2:c.1621A>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

NP_000213.1:p.Met541Leu

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

ENST00000288135.5:c.1621A>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

NC_000004.11:g.55593464A>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/201

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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