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ADCY5

From SNPedia

is agene
is mentioned by
Full nameadenylate cyclase 5
EntrezGene111
PheGenI111
VariationViewer111
ClinVarADCY5
dbSNP111
SADR111
HugeNav111
wikipediaADCY5
googleADCY5
gopubmedADCY5
EVSADCY5
HEFalMpADCY5
MyGene2ADCY5
23andMeADCY5
UniProtO95622
EnsemblENSG00000173175
OMIM600293
# SNPs11
 Max MagnitudeChromosome positionSummary
rs11708067123,346,931
rs11717195123,363,551
rs13317079123,284,451
rs2877716123,375,604
rs7571563900123,332,657
rs7960653068123,319,754
rs7970450020123,325,321
rs8643094830123,352,464
rs8643094840123,291,354
rs8643095150123,352,463
rs9883204123,377,973

The ADCY5 gene on chromosome 3 encodes adenylyl cyclase type V protein. Mutations inherited in an autosomal dominant manner in the ADCY5 gene can lead to a quite rare familial dyskinesia syndrome. Recently, this disorder has been termed ADCY5-related dyskinesia.

Several popular articles have been written about Lilly Grossman, a young girl ultimately diagnosed based on genome sequencing.[1][2] For a technical review of ADCY5 dyskinesias, see this Gene Review.

The ADCY5 gene mutations that are currently known to be associated with ADCY5-related dyskinesia include:

  • rs796065306, aka c.2176G>A or p.Ala726Thr
  • c.3086T>A or p.Met1029Lys (no SNP identifier in dbSNP yet)
  • c.1252C>T or p.Arg418Trp (no SNP identifier in dbSNP yet)