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Molecular Sequence Variation

MedGen UID:
475336
•Concept ID:
C3273703
•
Cell or Molecular Dysfunction

Definition

A variation in or modification of the molecular sequence of a gene or gene product. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMolecular Sequence Variation

Professional guidelines

PubMed

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S
Genet Med 2017 Oct;19(10):1105-1117. Epub 2017 May 11 doi: 10.1038/gim.2017.37. PMID: 28492532Free PMC Article
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee
Genet Med 2015 May;17(5):405-24. Epub 2015 Mar 5 doi: 10.1038/gim.2015.30. PMID: 25741868Free PMC Article

Recent clinical studies

Therapy

Enumeration of binary trees compatible with a perfect phylogeny.
Palacios JA, Bhaskar A, Disanto F, Rosenberg NA
J Math Biol 2022 May 12;84(6):54. doi: 10.1007/s00285-022-01748-w. PMID: 35552538Free PMC Article

Clinical prediction guides

Enumeration of binary trees compatible with a perfect phylogeny.
Palacios JA, Bhaskar A, Disanto F, Rosenberg NA
J Math Biol 2022 May 12;84(6):54. doi: 10.1007/s00285-022-01748-w. PMID: 35552538Free PMC Article

Supplemental Content

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    • PMC Articles
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