(Q28371604)

English

BRCA2 D3095E

genetic variant

ASP3095GLU
D3095E
RS80359198

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/661

human chromosome 13

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

32968854

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

32968854

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

positive diagnostic predictor for

determination method

CIViC evidence level C

CIViC 1-star trust rating

1 reference

28 August 2020

https://civic.genome.wustl.edu/links/evidence/1679

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000059.3:c.9285C>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

NP_000050.2:p.Asp3095Glu

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

ENST00000544455.1:c.9285C>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

NC_000013.10:g.32968854C>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/661

Sitelinks

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Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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