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English
STK11 D194E
genetic variant
D194E
ASP194GLU
RS786202134
In more languages
default values for all languages
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/634
loss of heterozygosity
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
chromosome
human chromosome 19
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
genomic start
1220489
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
genomic end
1220489
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
biological variant of
STK11
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
positive therapeutic predictor for
everolimus
medical condition treated
pancreatic cancer
determination method
CIViC evidence level C
rating
CIViC 2-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1617
stated in
mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome
Identifiers
CIViC variant ID
634
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
dbSNP Reference SNP number
rs786202134
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000019.9:g.1220489C>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
NM_000455.4:c.582C>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
NP_000446.1:p.Asp194Glu
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
ENST00000326873.7:c.582C>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/634
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