GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 Detail (hg19) (ADARB1, AIRE, APP, ATP5PF, ATP5PO, BACH1, PTTG1IP, CFAP410, TMEM50B, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, CRYAA, CSTB, CXADR, DSCAM, RCAN1, DYRK1A, ERG, ETS2, GABPA, GART, GRIK1, HLCS, HMGN1, PRMT2, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITGB2, KCNE1, KCNJ6, KCNJ15, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, PCP4, PDE9A, PFKL, PKNOX1, TMPRSS15, PWP2, S100B, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, UBE2G2, GET1, NRIP1, CHAF1B, GATD3, PDXK, RRP1, PSMG1, SYNJ1, MCM3AP, CLDN8, ADAMTS1, ABCG1, URB1, CRYZL1, DOP1B, KCNE2, RWDD2B, OLIG2, DSCR4, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, BTG3, HSF2BP, ADAMTS5, RRP1B, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, C2CD2, LTN1, CLDN17, N6AMT1, USP25, DNMT3L, DONSON, HUNK, ZBTB21, PIGP, UBASH3A, RIPPLY3, BRWD1, SLC37A1, RBM11, PCBP3, C21orf58, YBEY, LINC00160, SMIM11, EPCIP-AS1, MIS18A, LINC00158, CHODL-AS1, TSPEAR-AS1, TSPEAR, LINC00113, LINC00112, LINC00111, SETD4, FAM3B, RIPK4, CLIC6, LINC00308, H2BC12L, BACH1-IT3, MRPL39, C21orf91, DNAJC28, EPCIP, MRAP, CFAP298, AGPAT3, MAP3K7CL, SCAF4, JAM2, EVA1C, PRDM15, SAMSN1, TMPRSS3, MRPS6, RUNX1-IT1, COL18A1, LRRC3, SPATC1L, LINC01547, DSCR8, URB1-AS1, BAGE2, SLX9, RSPH1, UMODL1, ERVH48-1, PAXBP1, LINC00310, LINC00313, B3GALT5-AS1, LINC00334, TSPEAR-AS2, MCM3AP-AS1, MIR155HG, CYYR1, OLIG1, LINC00161, KRTAP13-1, TCP10L, CHODL, LIPI, TIAM1-AS1, LCA5L, IGSF5, SIK1, LINC00479, ZNF295-AS1, UMODL1-AS1, PLAC4, LINC00189, C21orf91-OT1, LINC00315, LINC00314, KRTAP15-1, DSCR9, DSCR10, D21S2088E, LINC00307, LINC00515, LINC01697, KRTAP13-4, LINC00323, LINC00319, AATBC, POTED, KRTAP7-1, KRTAP8-1, KRTAP11-1, KRTAP19-1, KRTAP13-2, KRTAP13-3, KRTAP23-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP21-1, KRTAP21-2, KRTAP22-1, KRTAP20-3, LINC01692, KRTAP12-2, KRTAP12-1, KRTAP10-10, PICSAR, LINC00317, COL18A1-AS1, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, KRTAP10-8, KRTAP10-3, KRTAP12-3, KRTAP12-4, KRTAP10-12, LINC00320, MIR99AHG, KRTAP26-1, SMIM34, LINC00316, LINC00114, ETS2-AS1, MIRLET7C, MIR125B2, MIR155, MIR99A, LINC01667, LINC00205, GRIK1-AS1, KRTAP24-1, KRTAP27-1, SNORA80A, LINC00163, LINC00165, KRTAP19-8, LINC01548, MIR802, LINC00322, PCBP3-AS1, KRTAP25-1, CBR1-AS1, KRTAP20-4, TRG-GCC1-5, KRTAP22-2, KRTAP21-3, IL10RB-DT, GRIK1-AS2, MIR4327, MIR548X, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, ITGB2-AS1, LINC01549, PAXBP1-AS1, LINC00649, LINC01426, LOC100506403, CBR3-AS1, DSCAM-AS1, LINC00159, MIR4760, MIR4759, MIR5692B, FTCD-AS1, LRRC3-DT, DIP2A-IT1, TTC3-AS1, BRWD1-AS1, SAMSN1-AS1, MIS18A-AS1, COL18A1-AS2, BACH1-IT2, DSCAM-IT1, CYYR1-AS1, LINC01436, LOC101927745, MIR548XHG, LINC01425, LINC01687, LINC01689, LINC01695, LOC101928107, LOC101928126, C21orf140, LOC101928212, LINC01671, LOC101928269, PDE9A-AS1, LINC01668, LOC101928398, LINC01679, LINC01700, TRPM2-AS, LINC01424, BNAT1, LOC101928796, RSPH1-DT, LOC101930100, LINC00945, MIR6070, MIR6501, MIR6724-1, MIR6814, MIR6815, MIR6130, MIR6508, LOC102723451, LOC102723475, LOC102723553, LINC01674, SOD1-DT, LINC01690, LINC01423, LINC02940, BRWD1-AS2, MIR6724-2, MIR3648-2, MIR6724-4, MIR8069, MIR6724-3, SETD4-AS1, CLDN14-AS1, LOC105369306, LOC105369308, LINC01666, LINC01683, LINC01684, LOC105372753, LINC01673, MRAP-AS1, LOC105372791, KCNJ6-AS1, PCSEAT, LOC105372832, DNMT3L-AS1, LINC01694, LOC105377134, LINC03039, LINC01678, LOC105379514, FRGCA, RNA45SN1, RNA18SN1, RNA5-8SN1, RNA28SN1, SNORA91, GET1-SH3BGR, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LINC02943, ASMER1, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, SNORD74B, SNORD159, LOC109648314, LOC109648316, LOC109648317, RNA45SN2, RNA18SN2, RNA5-8SN2, RNA28SN2, RNA45SN3, RNA18SN3, RNA5-8SN3, RNA28SN3, CFAP298-TCP10L, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, BTG3-AS1, LOC111099027, LOC111099028, LOC111188161, LINC02573, LINC02575, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, MIR10396B, MIR10396A, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, APP-DT, LOC119230225, LOC119266102, LOC120807613, LOC121627918, LOC121627919, LOC121627920, LOC121627921, LOC121627922, LOC121627923, LOC121627924, LOC121627925, LOC121627926, LOC121627927, LOC121725031, LINC02920, LOC121853021, LOC121853022, LOC121853023, LOC121853024, LOC121853025, LOC121853026, LOC121853027, LOC121853028, LOC121853029, LOC121853030, LOC121853031, LOC121853032, LOC121853033, LOC121853034, COL6A2-DT, HLCS-AS1, RUNX1-AS1, LOC125387321, LOC125387322, LOC125387324, LOC125387325, LOC125387326, LOC125418048, LOC125418049, LOC125418050, LOC125418051, LOC125418052, LOC125418053, LOC125418054, LOC125418055, LOC125418056, LOC125418057, LOC125418058, LOC125418059, LOC125418060, LOC125418061, LOC125418062, LOC125418063, LOC125418065, LOC125418066, LOC125418067, LOC125418068, LOC125418070, LOC125418071, LOC125418072, LOC125418073, LOC125418075, LOC125418076, LOC125418077, LOC125418078, LOC125418079, LOC125418080, LOC125418081, LOC125418082, LOC125418083, LOC125418084, LOC125418085, LOC125418086, LOC125418087, LOC125418088, LOC126088094, LOC126088095, LOC126653312, LOC126653313, LOC126653314, LOC126653315, LOC126653316, LOC126653317, LOC126653318, LOC126653319, LOC126653320, LOC126653321, LOC126653322, LOC126653323, LOC126653324, LOC126653325, LOC126653326, LOC126653327, LOC126653328, LOC126653329, LOC126653330, LOC126653331, LOC126653332, LOC126653333, LOC126653334, LOC126653335, LOC126653336, LOC126653337, LOC126653338, LOC126653339, LOC126653340, LOC126653341, LOC126653342, LOC126653343, LOC126653344, LOC126653345, LOC126653346, LOC126653347, LOC126653348, LOC126653349, LOC126653350, LOC126653351, LOC126653352, LOC126653353, LOC126653354, LOC126653355, LOC126653356, LOC126653357, LOC126653358, LOC126653359, LOC126653360, LOC126653361, LOC126653362, LOC126653363, LOC126653364, LOC126653365, LOC126653366, LOC126653367, LOC126653368, LOC126653369, LOC126653370, LOC126653371, LOC126653372, LOC126653373, LOC126653374, LOC126653375, LOC126653376, LOC126653377, LOC126653378, LOC126653379, LOC126653380, LOC126653381, LOC126653382, LOC126653383, LOC126653384, LOC126653385, LOC126653386, LOC126653387, LOC126653388, LOC126653389, LOC126653390, LOC126653391, LOC126653392, LOC126653393, LOC126653394, LOC126653395, LOC126653396, LOC126653397, LOC126653398, LOC126653399, LOC126653400, LOC126653401, LOC126653402, LOC126653403, LOC126653404, IFNAR2-IL10RB, LOC128092249, LOC128462413, LOC128462414, LOC128462415, LOC128462416, LOC128772427, LOC128849172, LOC129388418, LOC129391214, LOC129391215, LOC129391216, LOC129391217, LOC129391218, LOC129391219, LOC129391220, LOC129391221, LOC129391222, LOC129391223, LOC129391224, LOC129391225, LOC129391226, LOC129391227, LOC129391228, LOC129391229, LOC129391230, LOC129391231, LOC129391232, LOC129391233, LOC129391234, LOC129391235, LOC129391236, LOC129391237, LOC129391238, LOC129391239, LOC129391240, LOC129391241, LOC129391242, LOC129391243, LOC129391244, LOC129391245, LOC129391246, LOC129391247, LOC129391248, LOC129391249, LOC129391250, LOC129391251, LOC129391252, LOC129391253, LOC129391254, LOC130066429, LOC130066430, LOC130066431, LOC130066432, LOC130066433, LOC130066434, LOC130066435, LOC130066436, LOC130066437, LOC130066438, LOC130066439, LOC130066440, LOC130066441, LOC130066442, LOC130066443, LOC130066444, LOC130066445, LOC130066446, LOC130066447, LOC130066448, LOC130066449, LOC130066450, LOC130066451, LOC130066452, LOC130066453, LOC130066454, LOC130066455, LOC130066456, LOC130066457, LOC130066458, LOC130066459, LOC130066460, LOC130066461, LOC130066462, LOC130066463, LOC130066464, LOC130066465, LOC130066466, LOC130066467, LOC130066468, LOC130066469, LOC130066470, LOC130066471, LOC130066472, LOC130066473, LOC130066474, LOC130066475, LOC130066476, LOC130066477, LOC130066478, LOC130066479, LOC130066480, LOC130066481, LOC130066482, LOC130066483, LOC130066484, LOC130066485, LOC130066486, LOC130066487, LOC130066488, LOC130066489, LOC130066490, LOC130066491, LOC130066492, LOC130066493, LOC130066494, LOC130066495, LOC130066496, LOC130066497, LOC130066498, LOC130066499, LOC130066500, LOC130066501, LOC130066502, LOC130066503, LOC130066504, LOC130066505, LOC130066506, LOC130066507, LOC130066508, LOC130066509, LOC130066510, LOC130066511, LOC130066512, LOC130066513, LOC130066514, LOC130066515, LOC130066516, LOC130066517, LOC130066518, LOC130066519, LOC130066520, LOC130066521, LOC130066522, LOC130066523, LOC130066524, LOC130066525, LOC130066526, LOC130066527, LOC130066528, LOC130066529, LOC130066530, LOC130066531, LOC130066532, LOC130066533, LOC130066534, LOC130066535, LOC130066536, LOC130066537, LOC130066538, LOC130066539, LOC130066540, LOC130066541, LOC130066542, LOC130066543, LOC130066544, LOC130066545, LOC130066546, LOC130066547, LOC130066548, LOC130066549, LOC130066550, LOC130066551, LOC130066552, LOC130066553, LOC130066554, LOC130066555, LOC130066556, LOC130066557, LOC130066558, LOC130066559, LOC130066560, LOC130066561, LOC130066562, LOC130066563, LOC130066564, LOC130066565, LOC130066566, LOC130066567, LOC130066568, LOC130066569, LOC130066570, LOC130066571, LOC130066572, LOC130066573, LOC130066574, LOC130066575, LOC130066576, LOC130066577, LOC130066578, LOC130066579, LOC130066580, LOC130066581, LOC130066582, LOC130066583, LOC130066584, LOC130066585, LOC130066586, LOC130066587, LOC130066588, LOC130066589, LOC130066590, LOC130066591, LOC130066592, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, LOC130066608, LOC130066609, LOC130066610, LOC130066611, LOC130066612, LOC130066613, LOC130066614, LOC130066615, LOC130066616, LOC130066617, LOC130066618, LOC130066619, LOC130066620, LOC130066621, LOC130066622, LOC130066623, LOC130066624, LOC130066625, LOC130066626, LOC130066627, LOC130066628, LOC130066629, LOC130066630, LOC130066631, LOC130066632, LOC130066633, LOC130066634, LOC130066635, LOC130066636, LOC130066637, LOC130066638, LOC130066639, LOC130066640, LOC130066641, LOC130066642, LOC130066643, LOC130066644, LOC130066645, LOC130066646, LOC130066647, LOC130066648, LOC130066649, LOC130066650, LOC130066651, LOC130066652, LOC130066653, LOC130066654, LOC130066655, LOC130066656, LOC130066657, LOC130066658, LOC130066659, LOC130066660, LOC130066661, LOC130066662, LOC130066663, LOC130066664, LOC130066665, LOC130066666, LOC130066667, LOC130066668, LOC130066669, LOC130066670, LOC130066671, LOC130066672, LOC130066673, LOC130066674, LOC130066675, LOC130066676, LOC130066677, LOC130066678, LOC130066679, LOC130066680, LOC130066681, LOC130066682, LOC130066683, LOC130066684, LOC130066685, LOC130066686, LOC130066687, LOC130066688, LOC130066689, LOC130066690, LOC130066691, LOC130066692, LOC130066693, LOC130066694, LOC130066695, LOC130066696, LOC130066697, LOC130066698, LOC130066699, LOC130066700, LOC130066701, LOC130066702, LOC130066703, LOC130066704, LOC130066705, LOC130066706, LOC130066707, LOC130066708, LOC130066709, LOC130066710, LOC130066711, LOC130066712, LOC130066713, LOC130066714, LOC130066715, LOC130066716, LOC130066717, LOC130066718, LOC130066719, LOC130066720, LOC130066721, LOC130066722, LOC130066723, LOC130066724, LOC130066725, LOC130066726, LOC130066727, LOC130066728, LOC130066729, LOC130066730, LOC130066731, LOC130066732, LOC130066733, LOC130066734, LOC130066735, LOC130066736, LOC130066737, LOC130066738, LOC130066739, LOC130066740, LOC130066741, LOC130066742, LOC130066743, LOC130066744, LOC130066745, LOC130066746, LOC130066747, LOC130066748, LOC130066749, LOC130066750, LOC130066751, LOC130066752, LOC130066753, LOC130066754, LOC130066755, LOC130066756, LOC130066757, LOC130066758, LOC130066759, LOC130066760, LOC130066761, LOC130066762, LOC130066763, LOC130066764, LOC130066765, LOC130066766, LOC130066767, LOC130066768, LOC130066769, LOC130066770, LOC130066771, LOC130066772, LOC130066773, LOC130066774, LOC130066775, LOC130066776, LOC130066777, LOC130066778, LOC130066779, LOC130066780, LOC130066781, LOC130066782, LOC130066783, LOC130066784, LOC130066785, LOC130066786, LOC130066787, LOC130066788, LOC130066789, LOC130066790, LOC130066791, LOC130066792, LOC130066793, LOC130066794, LOC130066795, LOC130066796, LOC130066797, LOC130066798, LOC130066799, LOC130066800, LOC130066801, LOC130066802, LOC130066803, LOC130066804, LOC130066805, LOC130066806, LOC130066807, LOC130066808, LOC130066809, LOC130066810, LOC130066811, LOC130066812, LOC130066813, LOC130066814, LOC130066815, LOC130066816, LOC130066817, LOC130066818, LOC130066819, LOC130066820, LOC130066821, LOC130066822, LOC130066823, LOC130066824, LOC130066825, LOC130066826, LOC130066827, LOC130066828, LOC130066829, LOC130066830, LOC130066831, LOC130066832, LOC130066833, LOC130066834, LOC130066835, LOC130066836, LOC130066837, LOC130066838, LOC130066839, LOC130066840, LOC130066841, LOC130066842, LOC130066843, LOC130066844, LOC130066845, LOC130066846, LOC130066847, LOC130066848, LOC130066849, LOC130066850, LOC130066851, LOC130066852, LOC130066853, LOC130066854, LOC130066855, LOC130066856, LOC130066857, LOC130066858, LOC130066859, LOC130066860, LOC130066861, LOC130066862, LOC130066863, LOC130066864, LOC130066865, LOC130066866, LOC130066867, LOC130066868, LOC130066869, LOC130066870, LOC130066871, LOC130066872, LOC130066873, LOC130066874, LOC130066875, LOC130066876, LOC130066877, LOC130066878, LOC130066879, LOC130066880, LOC130066881, LOC130066882, LOC130066883, LOC130066884, LOC130066885, LOC132090607, LOC132090608, LOC132090609, LOC132090610, LOC132090611, LOC132090612, LOC132090613, LOC132090614, LOC132090615, LOC132090616, LOC132090617, LOC132090618, LOC132090916, LOC132090917)

Information

Genome

Assembly	Position
hg19	chr21:15,485,038-48,072,996
hg38	chr21:14,112,717-46,653,084

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Damaging scores predicted by bioinformatics tools

Neutral Damaging

SEE MORE

Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2010-11-30	no assertion criteria provided		not provided	Detail