GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 Detail (hg38) (ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AC25, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR14L1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BC26, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, SPMIP3, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, LOC440742, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, TMEM78, SNORA14B, LINC01347, LINC01348, BTNL10P, LINC02961, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, LOC100506929, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, AKT3-IT1, LOC101927143, LOC101927164, NUP133-DT, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LNCATV, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, LOC102724446, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, RAB4A-AS1, LINC01745, LOC105373209, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, ZNF496-DT, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LINC02814, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, H3-3A-DT, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725075, LOC121725076, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, ZNF692-DT, C1orf202, LOC122526782, LINC02971, LOC126264117, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC129932724, LOC129932725, LOC129932726, LOC129932727, LOC129932728, LOC129932729, LOC129932730, LOC129932731, LOC129932732, LOC129932733, LOC129932734, LOC129932735, LOC129932736, LOC129932737, LOC129932738, LOC129932739, LOC129932740, LOC129932741, LOC129932742, LOC129932743, LOC129932744, LOC129932745, LOC129932746, LOC129932747, LOC129932748, LOC129932749, LOC129932750, LOC129932751, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LINC03108, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090677)

Information

Genome

Assembly	Position
hg19	chr1:224,210,564-249,212,668 View the variant detail on this assembly version.
hg38	chr1:224,022,862-248,918,469

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	2011-09-16	no assertion criteria provided		not provided	Detail