GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 Detail (hg38) (NAT1, NAT2, ADRA1A, ANGPT2, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CTSB, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYSL2, EGR3, DMTN, EPHX2, PTK2B, FDFT1, FGL1, GATA4, GFRA2, GNRH1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STC1, TUSC3, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, MTMR7, MFHAS1, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, SPAG11B, PNMA2, ADAM28, LZTS1, XPO7, TRIM35, RHOBTB2, PSD3, SLC39A14, FGF20, ADAMDEC1, CNOT7, ZDHHC2, SLC25A37, KCTD9, PINX1, PIWIL2, INTS10, AGPAT5, CSGALNACT1, HR, DEFB103B, BIN3, MTUS1, TRMT9B, CCAR2, SH2D4A, PDLIM2, CSMD1, EBF2, FHIP2B, MTMR9, MCPH1, PPP1R3B, NUDT18, DOCK5, BIN3-IT1, REEP4, STMN4, SOX7, LINC00529, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, CLDN23, VPS37A, NKX2-6, SGCZ, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, MIR124-1HG, C8orf48, R3HCC1, PRSS55, C8orf74, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130A, NEIL2, LOC254896, XKR6, MICU3, LINC02153, LINC03019, PRSS51, LINC00965, USP17L2, XKR5, FAM90A3, FAM90A15, TNFRSF10A-DT, USP17L8, USP17L7, USP17L1, MIR124-1, MIR320A, DEFB103A, FAM90A13, FAM90A5, FAM90A7, FAM90A16, FAM90A8, FAM90A18, FAM90A9, FAM90A10, FAM90A11, FAM90A24, MIR383, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, LINC02905, DEFB135, DEFB136, DEFB134, FAM85A, DEFB109B, USP17L4, FAM90A22, FAM90A23, FAM90A14, USP17L3, FAM90A12, FAM86B2, SPAG11A, MIR597, MIR598, DEFA1B, FAM90A20, FAM90A17, FAM90A19, ZNF705D, LOC729732, FAM66B, LOC100128993, TDH-AS1, PRR23D1, ZNF705G, FAM66E, ZNF705B, FAM66D, FAM66A, PRR23D2, DEFB130B, MCPH1-DT, DEFB4B, MIR1322, MIR548I3, MIR548H4, MIR548V, MIR4286, MIR3926-2, MIR3926-1, FAM86B2-DT, PIWIL2-DT, LOXL2-AS1, MCPH1-AS1, MIR4659A, MIR4660, MIR4659B, GS1-24F4.2, MIR5692A2, LZTS1-AS1, LINC00681, LINC03021, LOC101928095, ASAH1-AS1, LOC101929128, LINC03093, LINC03022, PINX1-DT, LOC101929237, LOC101929258, LOC101929269, LOC101929290, ADAM7-AS1, ADAM7-AS2, MTUS1-DT, MIR6841, MIR6842, MIR6876, MIR8055, LINC03023, LOC102723313, PPP1R3B-DT, LOC102725080, LOC105377785, LOC105377796, FAM85B, LOC105379224, LOC105379230, LOC105379292, LOC105379301, LOC105379311, LOC105379314, LOC105379327, LOC105379331, SNORA99, LOC107522030, LOC107986876, CRE3, SNORD3F, SNORD3I, LOC110120689, LOC110120768, LOC110120769, LOC110120770, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC111365225, LOC111465018, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788286, LOC113788289, LOC113788294, LOC114827823, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, HRURF, ENTPD4-DT, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121740709, LOC121740710, LOC121740711, LOC121740712, LOC121740713, LINC02950, LOC123987607, LOC123987608, LOC123987609, LOC123987610, LOC123987611, LOC123987612, LOC123987613, LOC124049158, LOC124049159, LOC124049160, LOC124049161, LOC124049162, LOC124049163, LOC124049164, LOC124049165, LOC124049166, LOC124110275, LOC124110276, LOC124110277, LOC124153111, LOC124153112, LOC124153113, LOC124153114, LOC124153115, LOC124153116, LOC124153117, LOC124153118, LOC124153119, LOC124153120, LOC124153121, LOC124153122, LOC124153123, LOC124153124, LOC124153125, LOC124153126, LOC124153127, LOC124153128, LOC124153129, LOC124153130, LOC124153131, LOC124153132, LOC124901868, LINC02949, LOC126860283, LOC126860284, LOC126860285, LOC126860286, LOC126860287, LOC126860288, LOC126860289, LOC126860290, LOC126860291, LOC126860292, LOC126860293, LOC126860294, LOC126860295, LOC126860296, LOC126860297, LOC126860298, LOC126860299, LOC126860300, LOC126860301, LOC126860302, LOC126860303, LOC126860304, LOC126860305, LOC126860306, LOC126860307, LOC126860308, LOC126860309, LOC126860310, LOC126860311, LOC126860312, LOC126860313, LOC126860314, LOC126860315, LOC126860316, LOC126860317, LOC126860318, LOC126860319, LOC126860320, LOC126860321, LOC126860322, LOC126860323, LOC126860324, LOC126860325, LOC126860326, LOC126860327, LOC126860328, LOC126860329, LOC126860330, LOC126860331, LOC126860332, LOC128462397, LOC128772327, LOC128772328, LOC128966594, LOC129389953, LOC129389954, LOC129389955, LOC129389956, LOC129389957, LOC129389958, LOC129389959, LOC129389960, LOC129389961, LOC129389962, LOC129389963, LOC129389964, LOC129389965, LOC129389966, LOC129389967, LOC129389968, LOC129389969, LOC129389970, LOC129389971, LOC129999779, LOC129999780, LOC129999781, LOC129999782, LOC129999783, LOC129999784, LOC129999785, LOC129999786, LOC129999787, LOC129999788, LOC129999789, LOC129999790, LOC129999791, LOC129999792, LOC129999793, LOC129999794, LOC129999795, LOC129999796, LOC129999797, LOC129999798, LOC129999799, LOC129999800, LOC129999801, LOC129999802, LOC129999803, LOC129999804, LOC129999805, LOC129999806, LOC129999807, LOC129999808, LOC129999809, LOC129999810, LOC129999811, LOC129999812, LOC129999813, LOC129999814, LOC129999815, LOC129999816, LOC129999817, LOC129999818, LOC129999819, LOC129999820, LOC129999821, LOC129999822, LOC129999823, LOC129999824, LOC129999825, LOC129999826, LOC129999827, LOC129999828, LOC129999829, LOC129999830, LOC129999831, LOC129999832, LOC129999833, LOC129999834, LOC129999835, LOC129999836, LOC129999837, LOC129999838, LOC129999839, LOC129999840, LOC129999841, LOC129999842, LOC129999843, LOC129999844, LOC129999845, LOC129999846, LOC129999847, LOC129999848, LOC129999849, LOC129999850, LOC129999851, LOC129999852, LOC129999853, LOC129999854, LOC129999855, LOC129999856, LOC129999857, LOC129999858, LOC129999859, LOC129999860, LOC129999861, LOC129999862, LOC129999863, LOC129999864, LOC129999865, LOC129999866, LOC129999867, LOC129999868, LOC129999869, LOC129999870, LOC129999871, LOC129999872, LOC129999873, LOC129999874, LOC129999875, LOC129999876, LOC129999877, LOC129999878, LOC129999879, LOC129999880, LOC129999881, LOC129999882, LOC129999883, LOC129999884, LOC129999885, LOC129999886, LOC129999887, LOC129999888, LOC129999889, LOC129999890, LOC129999891, LOC129999892, LOC129999893, LOC129999894, LOC129999895, LOC129999896, LOC129999897, LOC129999898, LOC129999899, LOC129999900, LOC129999901, LOC129999902, LOC129999903, LOC129999904, LOC129999905, LOC129999906, LOC129999907, LOC129999908, LOC129999909, LOC129999910, LOC129999911, LOC129999912, LOC129999913, LOC129999914, LOC129999915, LOC129999916, LOC129999917, LOC129999918, LOC129999919, LOC129999920, LOC129999921, LOC129999922, LOC129999923, LOC129999924, LOC129999925, LOC129999926, LOC129999927, LOC129999928, LOC129999929, LOC129999930, LOC129999931, LOC129999932, LOC129999933, LOC129999934, LOC129999935, LOC129999936, LOC129999937, LOC129999938, LOC129999939, LOC129999940, LOC129999941, LOC129999942, LOC129999943, LOC129999944, LOC129999945, LOC129999946, LOC129999947, LOC129999948, LOC129999949, LOC129999950, LOC129999951, LOC129999952, LOC129999953, LOC129999954, LOC129999955, LOC129999956, LOC129999957, LOC129999958, LOC129999959, LOC129999960, LOC129999961, LOC129999962, LOC129999963, LOC129999964, LOC129999965, LOC129999966, LOC129999967, LOC129999968, LOC129999969, LOC129999970, LOC129999971, LOC129999972, LOC129999973, LOC129999974, LOC129999975, LOC129999976, LOC129999977, LOC129999978, LOC129999979, LOC129999980, LOC129999981, LOC129999982, LOC129999983, LOC129999984, LOC129999985, LOC129999986, LOC129999987, LOC129999988, LOC129999989, LOC129999990, LOC129999991, LOC129999992, LOC129999993, LOC129999994, LOC129999995, LOC129999996, LOC129999997, LOC129999998, LOC129999999, LOC130000000, LOC130000001, LOC130000002, LOC130000003, LOC130000004, LOC130000005, LOC130000006, LOC130000007, LOC130000008, LOC130000009, LOC130000010, LOC130000011, LOC130000012, LOC130000013, LOC130000014, LOC130000015, LOC130000016, LOC130000017, LOC130000018, LOC130000019, LOC130000020, LOC130000021, LOC130000022, LOC130000023, LOC130000024, LOC130000025, LOC130000026, LOC130000027, LOC130000028, LOC130000029, LOC130000030, LOC130000031, LOC130000032, LOC130000033, LOC130000034, LOC130000035, LOC130000036, LOC130000037, LOC130000038, LOC130000039, LOC130000040, LOC130000041, LOC130000042, LOC130000043, LOC130000044, LOC130000045, LOC130000046, LOC130000047, LOC130000048, LOC130000049, LOC130000050, LOC130000051, LOC130000052, LOC130000053, LOC130000054, LOC130000055, LOC130000056, LOC130000057, LOC130000058, LOC130000059, LOC130000060, LOC130000061, LOC130000062, LOC130000063, LOC130000064, LOC130000065, LOC130000066, LOC130000067, LOC130000068, LOC130000069, LOC130000070, LOC130000071, LOC130000072, LOC130000073, LOC130000074, LOC130000075, LOC130000076, LOC130000077, LOC130000078, LOC130000079, LOC130000080, LOC130000081, LOC130000082, LOC130000083, LOC130000084, LOC130000085, LOC130000086, LOC130000087, LOC130000088, LOC132089561, LOC132089562, LOC132089563, LOC132089564, LOC132089565, LOC132089566, LOC132089567, LOC132089568, LOC132089569, LOC132089570, LOC132089571, LOC132089572, LOC132089573, LOC132089574, LOC132089575, LOC132089576, LOC132089577, LOC132089578, LOC132089579, LOC132089580, LOC132089581, LOC132089582, LOC132089583, LOC132089584, LOC132089585, LOC132089586, LOC132089587, LOC132089588, LOC132089589, LOC132089590, LOC132089591, LOC132089592, LOC132089593, LOC132089594, LOC132089595, LOC132089596, LOC132089598, LOC132089602, LOC132089603, LOC132089604, LOC132090783, LOC132090784, LOC132090785, LOC132205968, LOC132205969)

Information

Genome

Assembly	Position
hg19	chr8:2,332,394-27,361,796
hg38	chr8:2,475,295-27,504,279

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	2010-05-27	no assertion criteria provided		not provided	Detail
Pathogenic	2011-08-12	criteria provided, single submitter		not provided	Detail