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ADCY3

From SNPedia
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# SNPs13
 Max MagnitudeChromosome positionSummary
rs1127568024,823,221
rs11689546024,907,582
rs13407913024,874,775
rs2033654024,880,239
rs2241759024,841,324
rs541941351024,918,797
rs6545800024,896,016
rs6545809024,903,846
rs6545814024,908,447
rs753529024,831,392
rs7586879024,894,108
rs7593130024,916,118
rs7604576024,824,539

The ADCY3 gene, located on chromosome 2, encodes the protein adenylyl cyclase type 3.

Several papers published in early 2018 report that certain rare mutations in the ADCY3 gene can cause obesity when inherited recessively.[PMID 29311636], [PMID 29311637]

The mutations reported to date as pathogenic for obesity include:

  • From [PMID 29311637]:
    • rs541941351, c.191A>T (p.Asn64Ile)
    • c.3315del (p.Ile1106Serfs*3); no rsID available
    • c.2578-1G>A; no rsID available
    • c.1268del (p.Gly423Alafs*19); no rsID available
    • c.3354_3356del (Phe1118del); no rsID available
  • From [PMID 29311636]
    • hg19:2:25050478C>T, NM_004036.4:c.2433-1G>A; observed in a Greenlandic cohort; no SNP rsID available