rs11466024 C>T

P369S
R197Q
R408Q
NC_000016.10:g.3249468C>T
NC_000016.9:g.3299468C>T
NG_007871.1:g.12160G>A
NM_000243.3:c.1223G>A
NM_000243.2:c.1223G>A
NM_001198536.2:c.590G>A
NM_001198536.1:c.590G>A
NP_000234.1:p.Arg408Gln
NP_001185465.2:p.Arg197Gln
NM_000243.2(MEFV):c.[1105C>T;1223G>A]
NC_000016.10:g.3249586G>A
NP_000234.1:p.Pro369Ser
NG_007871.1:g.12042C>T
LRG_190p1:p.Pro369Ser
LRG_190t1:c.1105C>T
NC_000016.9:g.3299586G>A
LRG_190:g.12160G>A
O15553:p.Pro369Ser
NM_000243.3:c.1105C>T
P158S
LRG_190p1:p.Arg408Gln
LRG_190t1:c.1223G>A
NM_001198536.2:c.472C>T
O15553:p.Arg408Gln
LRG_190:g.12042C>T
NP_001185465.2:p.Pro158Ser
AGATCA Генератор публикаций
Автор
06:40,
26 сентября 2019 г.
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Клиническая значимость
Эффект недостаточно изучен

Краткое описание

Мутация rs11466024 C>T расположена в гене MEFV и представляет собой null "C" на "T" в позиции 3,249,468 в хромосоме 16.

В настоящее время клиническая значимость данной вариации рассматривается как эффект недостаточно изучен.

Частота встречаемости в мире 1 на 100 человек (по данным проекта dbGaP_PopFreq). Данных о частоте встречаемости в России не найдено. В англоязычной литературе существует не менее 10 публикаций об этой мутации.

Международные публикации в PubMed

1. 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.

Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A
BMC Med Genet 2010 Jun 9

2. An informatics approach to analyzing the incidentalome.

Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP
Genet Med 2013 Jan

3. CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies.

Johnson AD, Bhimavarapu A, Benjamin EJ, Fox C, Levy D, Jarvik GP, O'Donnell CJ
Genet Med 2010 Jun

4. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

Ryan JG, Masters SL, Booty MG, Habal N, Alexander JD, Barham BK, Remmers EF, Barron KS, Kastner DL, Aksentijevich I
Ann Rheum Dis 2010 Jul

5. Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.

Sugiura T, Kawaguchi Y, Fujikawa S, Hirano Y, Igarashi T, Kawamoto M, Takagi K, Hara M, Kamatani N
Mod Rheumatol 2008

6. Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A
Pediatr Rheumatol Online J 2015

7. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

Villani AC, Lemire M, Louis E, Silverberg MS, Collette C, Fortin G, Nimmo ER, Renaud Y, Brunet S, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A, Langelier D, Rioux JD, Arnott ID, Wild GE, Rutgeerts P, Satsangi J, Vermeire S, Hudson TJ, Franchimont D
PLoS One 2009 Sep 28

8. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S
Am J Hum Genet 1999 Jul

9. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Feng J, Zhang Z, Li W, Shen X, Song W, Yang C, Chang F, Longmate J, Marek C, St Amand RP, Krontiris TG, Shively JE, Sommer SS
PLoS One 2009 Dec 30

10. 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

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