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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)
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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/2077
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/2077
genomic start
10191470
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
genomic end
10191470
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
biological variant of
VHL
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
Identifiers
CIViC variant ID
2077
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
dbSNP Reference SNP number
rs5030817
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000551.3:c.464-1G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
NC_000003.11:g.10191470G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
ENST00000256474.2:c.464-1G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
NP_000542.1:p.=
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
NC_000003.12:g.10149786G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2077
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