(Q28371427)

English

PML PML::RARA L218P

genetic variant

PML-RARA L218P
PML::RARA L218P

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/463

transcript fusion

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

human chromosome 15

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

74315219

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

74315219

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

negative therapeutic predictor for

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

acute promyelocytic leukemia

1 reference

1 August 2019

https://civic.genome.wustl.edu/links/evidence/1094

Missense mutations in PML-RARA are critical for the lack of responsiveness to arsenic trioxide treatment

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NC_000015.9:g.74315219T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/463

Sitelinks

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