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(Q28371251)
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SMO D473H
genetic variant
D473H
ASP473HIS
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No label defined
No description defined
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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/299
chromosome
human chromosome 7
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
genomic start
128849189
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
genomic end
128849189
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
biological variant of
SMO
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
negative therapeutic predictor for
vismodegib
determination method or standard
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
basal-cell carcinoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/755
stated in
Smoothened variants explain the majority of drug resistance in basal cell carcinoma
vismodegib
determination method or standard
CIViC evidence level C
rating
CIViC 3-star trust rating
medical condition treated
medulloblastoma
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/745
stated in
Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.
Identifiers
CIViC variant ID
299
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
dbSNP Reference SNP number
rs17710891
1 reference
stated in
CIViC database
HGVS nomenclature
NM_005631.4:c.1417G>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
NP_005622.1:p.Asp473His
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
ENST00000249373.3:c.1417G>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
NC_000007.13:g.128849189G>C
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/299
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