(Q42868341)

English

VHL Splice Site (c.341-2A>C)

genetic variant

Splicing alteration (c.341-2A>C)
C.341-2A>C
Splice Site (c.341-2A>C)

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Statements

splice acceptor variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

10188196

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

10188196

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

HGVS nomenclature

NC_000003.11:g.10188196A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

NM_000551.3:c.341-2A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

ENST00000256474.2:c.341-2A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2133

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