Синдром Коэна

Редкое наследственное заболевание, причиной которого является мутация в гене VPS13B. Типичны: микроцефалия, ожирение, необычное лицо с выступающими резцами, умственная отсталость, поражение сетчатки глаз, врождённая нейтропения. Встречается с повышенной частотой в финской популяции.

Узнать больше: https://ghr.nlm.nih.gov/condition/cohen-syndrome

Число исследованных генов: 1

Число исследованных мутаций: 10

Были исследованы мутации в следующих генах:

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
VPS13B:c.901_904delACTT frameshift_variant 0.000032 rs1057516726
VPS13B:c.2889G>A nonsense rs386834078
VPS13B:c.6370_6371delAT frameshift_variant 0.000010 rs748404277
VPS13B:c.5426_5427dupAG frameshift_variant rs180177363
VPS13B:c.8945T>A nonsense rs727504219
VPS13B:c.3348_3349delCT frameshift_variant 0.000420 rs180177327
VPS13B:c.3598C>T nonsense 0.000060 rs140353201
VPS13B:c.4923G>A nonsense rs180177360
VPS13B:c.10156dupA frameshift_variant 0.000032 rs386834055
VPS13B:c.6732+1G>A splice_donor_variant 0.000110 rs180177366

Редкие мутации, которые могут также приводить к заболеванию, но не были исследованы в ходе данного теста:

Мутация Тип Частота SNP
VPS13B:c.3072_3073delAAinsT frameshift_variant rs1057516834
VPS13B:c.1001delA frameshift_variant rs1057516324
VPS13B:c.2009_2013delAAAAG frameshift_variant rs1057517338
VPS13B:c.376C>T nonsense rs1057516422
VPS13B:c.3027_3045dup19 frameshift_variant 0.000032 rs1057516670
VPS13B:c.11955dupT frameshift_variant rs1057517328
VPS13B:c.292-2A>G splice_acceptor_variant rs386834079
VPS13B:c.3104delC frameshift_variant rs1057516926
VPS13B:c.3133delA frameshift_variant rs1057517447
VPS13B:c.8471G>A nonsense rs1057516484
VPS13B:c.11913T>A nonsense rs773094891
VPS13B:c.291+1G>A splice_donor_variant rs1057516857
VPS13B:c.5998_5999delCT frameshift_variant rs886041323
VPS13B:c.6122-5_6122delTATAGC rs1057516841
VPS13B:c.1040delC frameshift_variant rs1057516971
VPS13B:c.2816delAinsCC frameshift_variant rs1057517255
VPS13B:c.2824+2T>C splice_donor_variant 0.000020 rs141703746
VPS13B:c.6418C>T nonsense rs1057516287
VPS13B:c.6545C>A nonsense rs1057516494
VPS13B:c.8515C>T nonsense 0.000010 rs386834113
VPS13B:c.6730C>T nonsense rs1057516663
VPS13B:c.1079_1080delACinsG frameshift_variant rs1057516274
VPS13B:c.1495_1498delTTTG frameshift_variant rs1057517319
VPS13B:c.1563+1G>A splice_donor_variant rs1057516923
VPS13B:c.147+1G>A splice_donor_variant rs1057517029
VPS13B:c.1669delG frameshift_variant rs1057517283
VPS13B:c.7148G>A nonsense rs1057516559
VPS13B:c.6374G>A nonsense rs1057516331
VPS13B:c.6394C>T nonsense rs1057516489
VPS13B:c.11906_11916delCCAGCTGTTCTinsG frameshift_variant rs786204456
VPS13B:c.7504+2T>C splice_donor_variant rs1057517393
VPS13B:c.6583delA frameshift_variant rs1057517318
VPS13B:c.8634delG frameshift_variant rs1057517163
VPS13B:c.8696+2T>G splice_donor_variant rs1057517236
VPS13B:c.1664_1671delAACAAGAC frameshift_variant rs1057517177
VPS13B:c.2268delT frameshift_variant rs1057516532
VPS13B:c.2341A>T nonsense rs1057516681
VPS13B:c.11780_11784delCAGTGinsAA frameshift_variant rs386834067
VPS13B:c.5334dupT frameshift_variant 0.000032 rs786204533
VPS13B:c.436C>T nonsense 0.000125 rs144539572
VPS13B:c.11180_11189delCACTGGATGA frameshift_variant rs1057517202
VPS13B:c.5590C>T nonsense rs1057516633
VPS13B:c.5809_5810delAT frameshift_variant rs386834098
VPS13B:c.5827C>T nonsense 0.000032 rs386834099
VPS13B:c.3240delT frameshift_variant rs1057516912
VPS13B:c.5984-1G>T splice_acceptor_variant rs1057516694
VPS13B:c.5847dupA frameshift_variant rs1057517309
VPS13B:c.10181T>G nonsense rs1057516437
VPS13B:c.10456_10457delAG frameshift_variant rs180177371
VPS13B:c.412+1G>A splice_donor_variant rs1057517295
VPS13B:c.424_425delAG frameshift_variant rs1057517076
VPS13B:c.9760C>T nonsense rs941969577|rs1057516353
VPS13B:c.5409delC frameshift_variant 0.000010 rs763909903
VPS13B:c.11237_11238delGC frameshift_variant rs1057517376
VPS13B:c.11291-1G>A splice_acceptor_variant rs1057517441
VPS13B:c.11338delA frameshift_variant 0.000032 rs1057516245
VPS13B:c.6733_6748del16 frameshift_variant rs1057516495
VPS13B:c.6904delC frameshift_variant rs1057516302
VPS13B:c.7125+1G>T splice_donor_variant rs1057516840
VPS13B:c.11658dupG frameshift_variant rs1057517438
VPS13B:c.7255A>T nonsense rs1057516660
VPS13B:c.7292delA frameshift_variant rs886041184
VPS13B:c.7323-1G>A splice_acceptor_variant 0.000010 rs763079458
VPS13B:c.10943-2A>C splice_acceptor_variant rs745404712
VPS13B:c.11169_11172dupGGAC frameshift_variant rs386834059
VPS13B:c.9817+1G>T splice_donor_variant rs759374475
VPS13B:c.9831delT frameshift_variant rs1057517392
VPS13B:c.9850delA frameshift_variant rs1057516621
VPS13B:c.9905delC frameshift_variant rs1057516568
VPS13B:c.8958delG frameshift_variant rs1057516845
VPS13B:c.9028C>T nonsense rs1057516558
VPS13B:c.9066delT frameshift_variant rs1057516276
VPS13B:c.3902dupC frameshift_variant rs1057516653
VPS13B:c.4238T>A nonsense|intron_variant 0.000010 rs765998879
VPS13B:c.4411C>T nonsense 0.000050 rs386834086
VPS13B:c.9690-2A>C splice_acceptor_variant rs386834120
VPS13B:c.4821-1G>T splice_acceptor_variant 0.000010 rs768342041
VPS13B:c.4846C>T nonsense rs752429062
VPS13B:c.9793dupA frameshift_variant rs886041185
VPS13B:c.9955_9956delCC frameshift_variant rs1057516614
VPS13B:c.10017+1G>A splice_donor_variant rs1057517063
VPS13B:c.11650delC frameshift_variant rs1057516651
VPS13B:c.11468-1G>A splice_acceptor_variant rs747363890
VPS13B:c.11675C>A nonsense rs1057517385
VPS13B:c.10748dupT frameshift_variant rs1057517137
VPS13B:c.11595delA frameshift_variant 0.000020 rs747217399
VPS13B:c.9084delT frameshift_variant rs1057516538
VPS13B:c.9689+1G>T splice_donor_variant rs1057517168
VPS13B:c.11546_11549delCAAAinsTGT frameshift_variant rs1057516284
VPS13B:c.11695_11698delAGTG frameshift_variant rs386834066
VPS13B:c.9406-1G>A splice_acceptor_variant rs386834119
VPS13B:c.9257delA frameshift_variant rs1057516789
VPS13B:c.9259-2_9259delAGT splice_acceptor_variant rs1057516807