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AKT1

From SNPedia
is agene
is mentioned by
EntrezGene207
PheGenI207
VariationViewer207
ClinVarAKT1
GeneCardsAKT1
dbSNP207
DiseasesAKT1
SADR207
HugeNav207
wikipediaAKT1
googleAKT1
gopubmedAKT1
EVSAKT1
HEFalMpAKT1
MyGene2AKT1
23andMeAKT1
# SNPs22
 Max MagnitudeChromosome positionSummary
rs101382270104,793,369
rs101497790104,784,749
rs10575186020104,776,710
rs10575198040104,776,711
rs11302140104,793,397
rs11302330104,773,557
rs1214345920104,780,214
rs24947310104,771,343
rs24947322.1104,772,855
rs24947370104,779,988
rs24947460104,791,382
rs24947500104,796,575
rs24947510104,796,624
rs24947520104,797,271
rs24987860104,796,031
rs24988010104,769,221
rs37303580104,780,070
rs38033040104,772,809
rs3975146440104,780,190
rs3975146450104,770,805
rs58111550104,797,011
rs740900380104,796,444


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.