(Q32965720)

English

VHL H115Q (c.345C>A)

genetic variant

H115Q (c.345C>A)
C.345C>A
HIS115GLN
RS864622646

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No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

10188202

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

10188202

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.345C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

NP_000542.1:p.His115Gln

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

NC_000003.11:g.10188202C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

NM_000551.3:c.345C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1742

Sitelinks

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