Гепатолентикулярная дегенерация (Болезнь Вильсона-Коновалова)

Гепатолентикулярная дегенерация (Болезнь Вильсона-Коновалова) - наследственное нарушение метаболизма меди, причиной развития которого является мутация в гене ATP7B. Характеризуется сочетанием заболеваний печени с неврологическими и психиатрическими расстройствами. Частота встречаемости 1:30000-50000. Поражаются оба пола.

Узнать больше: https://ghr.nlm.nih.gov/condition/wilson-disease

Число исследованных генов: 1

Число исследованных мутаций: 90

Были исследованы мутации в следующих генах:

Мутации которые не были обнаружены:

Мутация Тип Частота SNP
ATP7B:c.2755C>G missense_variant|intron_variant 0.000129 rs121907993
ATP7B:c.2810delT frameshift_variant|intron_variant rs1057516643
ATP7B:c.4242delC frameshift_variant rs1057517191
ATP7B:c.1149+1G>A splice_donor_variant|intron_variant 0.000030 rs587783306
ATP7B:c.1340_1343delAAAC frameshift_variant rs1057517444
ATP7B:c.2828G>A missense_variant|intron_variant 0.000020 rs779323689
ATP7B:c.-9-2A>G splice_acceptor_variant rs1057517024
ATP7B:c.4114C>T nonsense 0.000010 rs755584106
ATP7B:c.1934T>G missense_variant|intron_variant 0.000337 rs121907998
ATP7B:c.1372G>T nonsense rs1057516305
ATP7B:c.2975C>T missense_variant 0.000050 rs201038679
ATP7B:c.2817G>T missense_variant|intron_variant rs1057517310
ATP7B:c.3517G>A missense_variant 0.000010 rs756029120
ATP7B:c.4088C>T missense_variant rs776848753
ATP7B:c.406-8T>G intron_variant rs193922102
ATP7B:c.1924G>C missense_variant|intron_variant rs72552285
ATP7B:c.2930C>T missense_variant 0.000140 rs72552255
ATP7B:c.3007G>A missense_variant 0.000115 rs201497300
ATP7B:c.3191A>C missense_variant 0.000115 rs374094065
ATP7B:c.3948delG frameshift_variant rs1057516228
ATP7B:c.2188-2A>G splice_acceptor_variant rs1057517233
ATP7B:c.2009_2015delATATGCT frameshift_variant|intron_variant 0.000020 rs779904655
ATP7B:c.1470C>A nonsense 0.000010 rs778675259
ATP7B:c.2123T>C missense_variant|intron_variant 0.000032 rs121908000
ATP7B:c.2035delC frameshift_variant|intron_variant rs786204764
ATP7B:c.2804C>T missense_variant|intron_variant 0.000180 rs750019452
ATP7B:c.3895C>T missense_variant 0.000050 rs749472361
ATP7B:c.1015-2A>G splice_acceptor_variant|intron_variant 0.000107 rs367956522
ATP7B:c.1716delG frameshift_variant rs1057516893
ATP7B:c.3053C>T missense_variant 0.000095 rs371840514
ATP7B:c.1512dupT frameshift_variant rs1057516418
ATP7B:c.3008C>T missense_variant 0.000090 rs775055397
ATP7B:c.2333G>T missense_variant|intron_variant 0.000170 rs28942074
ATP7B:c.524_525delAA frameshift_variant rs558037268
ATP7B:c.859+1G>C splice_donor_variant 0.000010 rs766149114
ATP7B:c.2071G>A missense_variant|intron_variant rs121908001
ATP7B:c.525dupA frameshift_variant rs758115611
ATP7B:c.3800delA frameshift_variant rs1057516740
ATP7B:c.-3451T>A splice_donor_variant 0.000010 rs759749626
ATP7B:c.3182G>A missense_variant 0.000050 rs764131178
ATP7B:c.1528-2A>G splice_acceptor_variant rs786204584
ATP7B:c.4058G>A nonsense 0.000010 rs193922110
ATP7B:c.1820dupA frameshift_variant rs1057516940
ATP7B:c.3104G>T missense_variant rs753594031
ATP7B:c.3659C>T missense_variant rs193922107
ATP7B:c.122A>G missense_variant 0.000265 rs201738967
ATP7B:c.2605G>A missense_variant 0.000960 rs191312027
ATP7B:c.3942_3943delCA frameshift_variant rs1057516227
ATP7B:c.3552dupT frameshift_variant rs748924063
ATP7B:c.3529C>T nonsense rs1057516479
ATP7B:c.3556G>A missense_variant rs786204547
ATP7B:c.813C>A nonsense|intron_variant 0.000400 rs572147914
ATP7B:c.1337_1338insTT frameshift_variant rs1057517141
ATP7B:c.3263T>A nonsense 0.000010 rs753250853
ATP7B:c.3295G>A missense_variant 0.000010 rs761632029
ATP7B:c.1014+1G>A splice_donor_variant rs1057516425
ATP7B:c.4051C>T nonsense rs786204578
ATP7B:c.3426G>C missense_variant 0.000030 rs778749563
ATP7B:c.103A>T nonsense rs1057516516
ATP7B:c.3646G>A missense_variant 0.000040 rs776280797
ATP7B:c.2668G>A missense_variant 0.000032 rs786204718
ATP7B:c.2157C>A nonsense|intron_variant rs1057516380
ATP7B:c.3207C>A missense_variant 0.000670 rs76151636
ATP7B:c.865C>T nonsense|intron_variant 0.000040 rs121907999
ATP7B:c.3317T>A missense_variant 0.000010 rs775541743
ATP7B:c.2332C>G missense_variant|intron_variant rs137853284
ATP7B:c.331C>T nonsense 0.000010 rs774221179
ATP7B:c.2336G>A nonsense|intron_variant 0.000120 rs137853283
ATP7B:c.254G>T missense_variant rs786204643
ATP7B:c.2303C>T missense_variant|intron_variant rs1057516844
ATP7B:c.2128G>A missense_variant|intron_variant rs137853285
ATP7B:c.3443T>C missense_variant 0.000040 rs60431989
ATP7B:c.1840+1G>A splice_donor_variant 0.000105 rs184388696
ATP7B:c.3301G>A missense_variant rs786204483
ATP7B:c.3818C>T missense_variant 0.000030 rs758355520
ATP7B:c.778dupC frameshift_variant rs786204570
ATP7B:c.1782delT frameshift_variant 0.000010 rs780327716
ATP7B:c.-4687G>T splice_acceptor_variant rs1057517351
ATP7B:c.3402delC frameshift_variant 0.000110 rs137853281
ATP7B:c.2383C>T missense_variant 0.000030 rs751710854
ATP7B:c.2519C>T missense_variant 0.000010 rs768671894
ATP7B:c.3598C>T nonsense rs786204658
ATP7B:c.174dupC frameshift_variant rs1057516561
ATP7B:c.314C>A nonsense rs753236073
ATP7B:c.2293G>A missense_variant|intron_variant rs28942075
ATP7B:c.1745_1746delTA frameshift_variant 0.000030 rs753962912
ATP7B:c.3664delG frameshift_variant rs886042519
ATP7B:c.388_389dupGC frameshift_variant rs1057517384
ATP7B:c.3451C>T missense_variant 0.000040 rs755554442
ATP7B:c.3649_3654delGTTCTG 0.000030 rs781266802

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

Мутация Тип Частота SNP
ATP7B:c.-9-1G>A splice_acceptor_variant rs137853280
ATP7B:c.-9-1G>C splice_acceptor_variant 0.000032 rs137853280
ATP7B:c.3955C>T nonsense 0.000120 rs193922109
ATP7B:c.2532delA frameshift_variant 0.000020 rs755709270
ATP7B:c.4092_4093delGT frameshift_variant rs771603301
ATP7B:c.2513delA frameshift_variant 0.000010 rs777362050
ATP7B:c.731+1delG splice_donor_variant rs1057516732