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EGFR R108K
genetic variant
R108K
ARG108LYS
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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
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
chromosome
human chromosome 7
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
genomic start
55211080
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
genomic end
55211080
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
biological variant of
EGFR
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
positive therapeutic predictor for
erlotinib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
glioma
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4186
stated in
Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain
Identifiers
CIViC variant ID
994
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
dbSNP Reference SNP number
rs1057519828
1 reference
stated in
CIViC database
HGVS nomenclature
NM_005228.4:c.323G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
NP_005219.2:p.Arg108Lys
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
NC_000007.13:g.55211080G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
ENST00000275493.2:c.323G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/994
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