(Q42786693)

English

VHL E70K (c.208G>A)

genetic variant

E70L (c.208G>A)
E70K (c.208G>A)
C.208G>A
GLU70LYS
RS5030802

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/1956

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

10183739

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

10183739

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

positive diagnostic predictor for

von Hippel-Lindau disease

determination method or standard

CIViC evidence level C

CIViC 3-star trust rating

1 reference

28 August 2020

https://civic.genome.wustl.edu/links/evidence/6288

A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.208G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

NP_000542.1:p.Glu70Lys

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

NC_000003.11:g.10183739G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

ENST00000256474.2:c.208G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1956

Sitelinks

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Multilingual sites(0 entries)

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