NC_000004.12:g.5753023_5753025del

F183del
F383del
F429del
NC_000004.11:g.5754750_5754752del
NG_008843.1:g.46827_46829del
NM_153717.3:c.1286_1288del
NM_153717.2:c.1286_1288del
NM_001306090.2:c.1286_1288del
NM_001306090.1:c.1286_1288del
NM_001306092.2:c.1286_1288del
NM_001306092.1:c.1286_1288del
XM_011513419.3:c.1286_1288del
XM_011513419.2:c.1286_1288del
XM_011513419.1:c.1286_1288del
XM_017007883.3:c.1286_1288del
XM_017007883.2:c.1286_1288del
XM_017007883.1:c.1286_1288del
NM_014556.2:c.1286_1288del
XM_047449774.1:c.1286_1288del
XM_047449769.1:c.1286_1288del
XM_047449800.1:c.1286_1288del
XM_047449808.1:c.1148_1150del
XM_047449778.1:c.1286_1288del
XM_047449781.1:c.1286_1288del
XM_047449786.1:c.1286_1288del
XM_047449773.1:c.1286_1288del
XM_047449810.1:c.548_550del
XM_047449777.1:c.1286_1288del
XM_047449776.1:c.1286_1288del
XM_047449780.1:c.1286_1288del
XM_047449779.1:c.1286_1288del
XM_047449785.1:c.1286_1288del
XM_047449795.1:c.1286_1288del
XM_047449775.1:c.1286_1288del
XM_047449801.1:c.1286_1288del
XM_047449783.1:c.1286_1288del
XM_047449789.1:c.1286_1288del
XM_047449793.1:c.1286_1288del
XM_047449771.1:c.1286_1288del
XM_047449782.1:c.1286_1288del
XM_047449784.1:c.1286_1288del
XM_047449788.1:c.1286_1288del
XM_047449787.1:c.1286_1288del
XM_047449807.1:c.1286_1288del
XM_047449772.1:c.1286_1288del
XM_047449791.1:c.1286_1288del
XM_047449805.1:c.1286_1288del
XM_047449792.1:c.1286_1288del
XM_047449804.1:c.1286_1288del
NM_014556.1:c.1286_1288del
XM_047449790.1:c.1286_1288del
XM_047449797.1:c.1286_1288del
XM_047449802.1:c.1286_1288del
XM_047449794.1:c.1286_1288del
XM_047449796.1:c.1286_1288del
XM_047449798.1:c.1286_1288del
XM_047449806.1:c.1286_1288del
XM_047449770.1:c.1286_1288del
XM_047449803.1:c.1286_1288del
XM_047449799.1:c.1286_1288del
XM_047449809.1:c.1286_1288del
NP_714928.1:p.Phe429del
NP_001293019.1:p.Phe429del
NP_001293021.1:p.Phe429del
XP_011511721.1:p.Phe429del
XP_016863372.1:p.Phe429del
XP_047305730.1:p.Phe429del
XP_047305725.1:p.Phe429del
XP_047305756.1:p.Phe429del
XP_047305764.1:p.Phe383del
XP_047305734.1:p.Phe429del
XP_047305737.1:p.Phe429del
XP_047305742.1:p.Phe429del
XP_047305729.1:p.Phe429del
XP_047305766.1:p.Phe183del
XP_047305733.1:p.Phe429del
XP_047305732.1:p.Phe429del
XP_047305736.1:p.Phe429del
XP_047305735.1:p.Phe429del
XP_047305741.1:p.Phe429del
XP_047305751.1:p.Phe429del
XP_047305731.1:p.Phe429del
XP_047305757.1:p.Phe429del
XP_047305739.1:p.Phe429del
XP_047305745.1:p.Phe429del
XP_047305749.1:p.Phe429del
XP_047305727.1:p.Phe429del
XP_047305738.1:p.Phe429del
XP_047305740.1:p.Phe429del
XP_047305744.1:p.Phe429del
XP_047305743.1:p.Phe429del
XP_047305763.1:p.Phe429del
XP_047305728.1:p.Phe429del
XP_047305747.1:p.Phe429del
XP_047305761.1:p.Phe429del
XP_047305748.1:p.Phe429del
XP_047305760.1:p.Phe429del
XP_047305746.1:p.Phe429del
XP_047305753.1:p.Phe429del
XP_047305758.1:p.Phe429del
XP_047305750.1:p.Phe429del
XP_047305752.1:p.Phe429del
XP_047305754.1:p.Phe429del
XP_047305762.1:p.Phe429del
XP_047305726.1:p.Phe429del
XP_047305759.1:p.Phe429del
XP_047305755.1:p.Phe429del
XP_047305765.1:p.Phe429del
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)
NC_000004.12:g.5753023_5753025del
AGATCA Генератор публикаций
Автор
05:39,
15 мая 2020 г.
свернуть все

Клиническая значимость
Эффект недостаточно изучен

Краткое описание

Мутация NC000004.12:g.57530235753025del расположена в гене EVC и представляет собой делецию (удаление) "CTTCT" на "CT" в позиции 5,753,021-5,753,025 в хромосоме 4.

Для заболевания "Синдром Эллиса – ван Кревельда" клинический эффект этой мутации изучен недостаточно.

Данных о частоте встречаемости в мире и в России не найдено.

Связанные болезни и признаки
Эффект недостаточно изучен
Clinvar
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