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AKT1

From SNPedia

is agene
is mentioned by
EntrezGene207
PheGenI207
VariationViewer207
ClinVarAKT1
dbSNP207
SADR207
HugeNav207
wikipediaAKT1
googleAKT1
gopubmedAKT1
EVSAKT1
HEFalMpAKT1
MyGene2AKT1
23andMeAKT1
# SNPs19
 Max MagnitudeChromosome positionSummary
rs10138227104,793,369
rs10149779104,784,749
rs1130214104,793,397
rs1130233104,773,557
rs1214345920104,780,214
rs2494731104,771,343
rs24947322.1104,772,855
rs2494737104,779,988
rs2494746104,791,382
rs2494750104,796,575
rs2494751104,796,624
rs2494752104,797,271
rs2498786104,796,031
rs3730358104,780,070
rs3803304104,772,809
rs3975146440104,780,190
rs3975146450104,770,805
rs5811155104,797,011
rs74090038104,796,444


NEJM Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G>A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase.