(Q42868285)

English

VHL Splice Site (c.464-1G>A)

genetic variant

Splicing alteration (c.464-1G>A)
C.464-1G>A
RS5030817
Splice Site (c.464-1G>A)

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Statements

splice acceptor variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

10191470

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

10191470

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.464-1G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

NC_000003.11:g.10191470G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

ENST00000256474.2:c.464-1G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1974

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