(Q28371213)

English

MTHFR A222V

genetic variant

RS1801133
C677T
ALA222VAL
A222V

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

11856378

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

11856378

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

positive therapeutic predictor for

medical condition treated

determination method or standard

CIViC evidence level B

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1757

A common variant in MTHFR influences response to chemoradiotherapy and recurrence of rectal cancer

medical condition treated

determination method or standard

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/669

The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population.

positive prognostic predictor for

pancreatic cancer

determination method or standard

CIViC evidence level B

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1756

MTHFR c.677C>T Inhibits Cell Proliferation and Decreases Prostate Cancer Susceptibility in the Han Chinese Population in Shanghai.

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_005957.4:c.665C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

NP_005948.3:p.Ala222Val

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

ENST00000376592.1:c.665G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

NC_000001.10:g.11856378G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/258

Sitelinks

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