(Q42868323)

English

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

genetic variant

Splicing alteration (c.464-1G>C)
C.464-1G>C
RS5030817
IVS2-1G>C
Splice Site (c.464-1G>C)

In more languages

Statements

splice acceptor variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

10191470

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

10191470

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

dbSNP Reference SNP number

1 reference

HGVS nomenclature

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

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

NC_000003.11:g.10191470G>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

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

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

NP_000542.1:p.=

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

NC_000003.12:g.10149786G>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/2077

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42868323&oldid=2014810707"