(Q29938291)

English

PDGFRA H845Y

genetic variant

H845Y
HIS845TYR
RS1057519814

In more languages

default values for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

55152101

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

55152101

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

positive therapeutic predictor for

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1976

Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1976

Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_006206.4:c.2533C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

NP_006197.1:p.His845Tyr

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

NC_000004.11:g.55152101C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

ENST00000257290.5:c.2533C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/864

Sitelinks

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Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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