PDGFRA V561A (Q28371208)

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genetic variant

V561A
VAL561ALA
RS121908586

Language	Label	Description	Also known as
English	PDGFRA V561A	genetic variant	V561A VAL561ALA RS121908586

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

55141036

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

55141036

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

positive therapeutic predictor for

medical condition treated

gastrointestinal stromal tumor

determination method or standard

CIViC evidence level D

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/652

Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors.

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000257290.5:c.1682T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

NC_000004.11:g.55141036T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

NM_006206.5:c.1682T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

NP_006197.1:p.Val561Ala

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/247

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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