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CASP8 D302H
genetic variant
RS1045485
D302H
D285H
ASP302HIS
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
Polymorphic Sequence Variant
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
chromosome
human chromosome 2
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
genomic start
202149589
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
genomic end
202149589
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
biological variant of
CASP8
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
negative prognostic predictor for
neuroblastoma
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1654
stated in
CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients
Identifiers
CIViC variant ID
650
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
dbSNP Reference SNP number
rs1045485
1 reference
stated in
CIViC database
HGVS nomenclature
NM_001228.4:c.904G>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
NP_001219.2:p.Asp302His
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
ENST00000264275.5:c.904G>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
NC_000002.11:g.202149589G>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/650
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