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(Q42868324)
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VHL Splice Site (c.464-2A>G)
genetic variant
Splicing alteration (c.464-2A>G)
RS5030816
C.464-2A>G
Splice Site (c.464-2A>G)
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Statements
instance of
splice acceptor variant
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
chromosome
human chromosome 3
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
genomic start
10191469
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
genomic end
10191469
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
biological variant of
VHL
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
Identifiers
CIViC variant ID
2078
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
dbSNP Reference SNP number
rs5030816
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000551.3:c.464-2A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
NC_000003.11:g.10191469A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
ENST00000256474.2:c.464-2A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2078
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