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ADCY3

From SNPedia
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is mentioned by
ClinVarADCY3
GeneCardsADCY3
DiseasesADCY3
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EVSADCY3
HEFalMpADCY3
MyGene2ADCY3
23andMeADCY3
# SNPs13
 Max MagnitudeChromosome positionSummary
rs112756824,823,221
rs1168954624,907,582
rs1340791324,874,775
rs203365424,880,239
rs224175924,841,324
rs541941351024,918,797
rs654580024,896,016
rs654580924,903,846
rs654581424,908,447
rs75352924,831,392
rs758687924,894,108
rs759313024,916,118
rs760457624,824,539

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