GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 Detail (hg19) (ACTB, ADCYAP1R1, AHR, AOAH, AQP1, SEPTIN7, CHN2, CRHR2, DGKB, GSDME, ETV1, EVX1, GARS1, GHRHR, GNA12, GPER1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDE1C, PDGFA, PMS2, PRKAR1B, RAC1, RP9, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, TAX1BP1, SKAP2, CYTH3, CREB5, NFE2L3, PHF14, HDAC9, RAPGEF5, SCRN1, KIAA0087, ELMO1, TRIL, AP5Z1, ARL4A, NOD1, GPNMB, AGR2, IGF2BP3, PPP1R17, KDELR2, ADAP1, NUP42, HIBADH, INMT, FKBP9, CBX3, AVL9, SNX13, IQCE, DPY19L1, SUN1, MATCAP2, LSM5, SOSTDC1, KBTBD2, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BBS9, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, NT5C3A, GET4, CCZ1, PALS2, CYCS, ANLN, MIOS, RNF216, CPVL, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, FLJ20712, FKBP14, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, TBX20, RBAK, NEUROD6, NPVF, HERPUD2, GGCT, INTS15, MGC4859, MICALL2, FBXL18, TTYH3, EEPD1, USP42, MINDY4, PSMG3, C7orf50, CARD11, TNRC18, HYCC1, PLEKHA8, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, SPMIP4, AMZ1, AGR3, BMPER, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, MTURN, PRR15, FERD3L, SLC29A4, RSPH10B, ITPRID1, ZNRF2, TMEM196, STEAP1B, LINC02860, HOXA-AS2, UNCX, COL28A1, ABCB5, FAM221A, MACC1, NPSR1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GARS1-DT, LINC00997, LOC401324, GRIFIN, NPSR1-AS1, MIR148A, LINC02981, PDGFA-DT, LOC442497, MIR339, MIR196B, IL6-AS1, WIPF3, LINC03007, LOC646762, OCM, SNORD93, MIR550A1, MIR550A2, MIR589, RSPH10B2, UMAD1, CRPPA, TSL, JAZF1-AS1, LOC100128653, LINC02983, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, FOXL3-OT1, MIR1200, MIR1183, MIR1302-6, MIR548N, ANKRD61, HOTTIP, MIR3146, MIR550B2, MIR550B1, MIR3683, GLCCI1-DT, ICA1-AS1, CRPPA-AS1, LRRC72, GIRGL, STEAP1B-AS1, LINC03095, HOTAIRM1, CPVL-AS2, LINC01176, LINC03013, LINC03014, INMT-MINDY4, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR550A3, MIR4656, KLHL7-DT, ELMO1-AS1, MACC1-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, EVX1-AS, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, CARD11-AS1, LINC03016, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, SEPTIN7-DT, LOC101928618, LOC101929756, HERPUD2-AS1, MIR6836, MIR6874, LINC02888, LINC03015, CHN2-AS1, C7orf78, LINC01162, LOC105375113, LOC105375115, LOC105375120, LOC105375131, SDK1-AS1, LOC105375146, LOC105375148, LOC105375166, HDAC9-AS1, LOC105375181, TAX1BP1-AS1, FKBP14-AS1, LOC105375218, LOC105375224, LOC105375233, LOC105375303, SNX10-AS1, LOC106783574, LOC106799841, LOC106799845, ORS8, LOC107126281, LOC107126288, LOC107197952, PRR15-DT, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121066, LOC110121099, LOC110121115, LOC110121156, LOC110121158, LOC110121162, LOC110121180, LOC110121185, LOC110121290, LOC110121291, LOC111365168, LOC111365184, LOC111365192, LOC111413014, LOC111465017, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, LOC114827829, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116435278, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, LOC121740675, LOC121740676, LOC121740677, SMIM10L3, LOC123924885, LOC123924886, LOC123924887, LOC123924888, LOC123924889, LOC123924890, LOC123924891, LOC123924892, LOC123924893, LOC123924894, LOC123924895, LOC123924896, LOC123924897, LOC123924898, LOC123924899, LOC123924900, LOC123924901, LOC123924902, LOC123924903, LOC123924904, LOC123924905, LOC123924906, LOC123924907, LOC123924908, LOC123924909, LOC123924910, LOC123924911, LOC123924912, LOC123924913, LOC123924914, LOC123924915, LOC123924916, LOC123924917, LOC123924918, LOC123924919, LOC123924920, LOC123924921, LOC123956119, LOC123956120, LOC123956121, LOC123956122, LOC123956123, LOC123956124, LOC123956125, LOC123956126, LOC123956127, LOC123956128, LOC123956129, LOC123956130, LOC126859916, LOC126859917, LOC126859918, LOC126859919, LOC126859920, LOC126859921, LOC126859922, LOC126859923, LOC126859924, LOC126859925, LOC126859926, LOC126859927, LOC126859928, LOC126859929, LOC126859930, LOC126859931, LOC126859932, LOC126859933, LOC126859934, LOC126859935, LOC126859936, LOC126859937, LOC126859938, LOC126859939, LOC126859940, LOC126859941, LOC126859942, LOC126859943, LOC126859944, LOC126859945, LOC126859946, LOC126859947, LOC126859948, LOC126859949, LOC126859950, LOC126859951, LOC126859952, LOC126859953, LOC126859954, LOC126859955, LOC126859956, LOC126859957, LOC126859958, LOC126859959, LOC126859960, LOC126859961, LOC126859962, LOC126859963, LOC126859964, LOC126859965, LOC126859966, LOC126859967, LOC126859968, LOC126859969, LOC126859970, LOC126859971, LOC126859972, LOC126859973, LOC126859974, LOC126859975, LOC126859976, LOC126859977, LOC126859978, LOC126859979, LOC126859980, LOC126859981, LOC126859982, LOC126859983, LOC126859984, LOC126859985, LOC126859986, LOC126859987, LOC126859988, LOC126859989, LOC126859990, LOC126859991, LOC126859992, LOC126859993, LOC126859994, LOC126859995, LOC126859996, LOC126859997, LINC03073, LOC128772304, LOC128772305, LOC128772306, LOC128772307, LOC128772308, LOC128772309, LOC128772310, LOC128772311, LOC129389726, LOC129389727, LOC129389728, LOC129389729, LOC129389730, LOC129389731, LOC129389732, LOC129389733, LOC129389734, LOC129389735, LOC129389736, LOC129389737, LOC129389738, LOC129389739, LOC129389740, LOC129389741, LOC129389742, LOC129389743, LOC129389744, LOC129389745, LOC129389746, LOC129389747, LOC129389748, LOC129389749, LOC129389750, LOC129389751, LOC129389752, LOC129389753, LOC129389754, LOC129389755, LOC129389756, LOC129389757, LOC129389758, LOC129389759, LOC129389760, LOC129389761, LOC129389762, LOC129389763, LOC129389764, LOC129389765, LOC129389766, LOC129389767, LOC129389768, LOC129389769, LOC129389770, LOC129389771, LOC129389772, LOC129389773, LOC129389774, LOC129389775, LOC129389776, LOC129389777, LOC129389778, LOC129389779, LOC129389780, LOC129389781, LOC129997718, LOC129997719, LOC129997720, LOC129997721, LOC129997722, LOC129997723, LOC129997724, LOC129997725, LOC129997726, LOC129997727, LOC129997728, LOC129997729, LOC129997730, LOC129997731, LOC129997732, LOC129997733, LOC129997734, LOC129997735, LOC129997736, LOC129997737, LOC129997738, LOC129997739, LOC129997740, LOC129997741, LOC129997742, LOC129997743, LOC129997744, LOC129997745, LOC129997746, LOC129997747, LOC129997748, LOC129997749, LOC129997750, LOC129997751, LOC129997752, LOC129997753, LOC129997754, LOC129997755, LOC129997756, LOC129997757, LOC129997758, LOC129997759, LOC129997760, LOC129997761, LOC129997762, LOC129997763, LOC129997764, LOC129997765, LOC129997766, LOC129997767, LOC129997768, LOC129997769, LOC129997770, LOC129997771, LOC129997772, LOC129997773, LOC129997774, LOC129997775, LOC129997776, LOC129997777, LOC129997778, LOC129997779, LOC129997780, LOC129997781, LOC129997782, LOC129997783, LOC129997784, LOC129997785, LOC129997786, LOC129997787, LOC129997788, LOC129997789, LOC129997790, LOC129997791, LOC129997792, LOC129997793, LOC129997794, LOC129997795, LOC129997796, LOC129997797, LOC129997798, LOC129997799, LOC129997800, LOC129997801, LOC129997802, LOC129997803, LOC129997804, LOC129997805, LOC129997806, LOC129997807, LOC129997808, LOC129997809, LOC129997810, LOC129997811, LOC129997812, LOC129997813, LOC129997814, LOC129997815, LOC129997816, LOC129997817, LOC129997818, LOC129997819, LOC129997820, LOC129997821, LOC129997822, LOC129997823, LOC129997824, LOC129997825, LOC129997826, LOC129997827, LOC129997828, LOC129997829, LOC129997830, LOC129997831, LOC129997832, LOC129997833, LOC129997834, LOC129997835, LOC129997836, LOC129997837, LOC129997838, LOC129997839, LOC129997840, LOC129997841, LOC129997842, LOC129997843, LOC129997844, LOC129997845, LOC129997846, LOC129997847, LOC129997848, LOC129997849, LOC129997850, LOC129997851, LOC129997852, LOC129997853, LOC129997854, LOC129997855, LOC129997856, LOC129997857, LOC129997858, LOC129997859, LOC129997860, LOC129997861, LOC129997862, LOC129997863, LOC129997864, LOC129997865, LOC129997866, LOC129997867, LOC129997868, LOC129997869, LOC129997870, LOC129997871, LOC129997872, LOC129997873, LOC129997874, LOC129997875, LOC129997876, LOC129997877, LOC129997878, LOC129997879, LOC129997880, LOC129997881, LOC129997882, LOC129997883, LOC129997884, LOC129997885, LOC129997886, LOC129997887, LOC129997888, LOC129997889, LOC129997890, LOC129997891, LOC129997892, LOC129997893, LOC129997894, LOC129997895, LOC129997896, LOC129997897, LOC129997898, LOC129997899, LOC129997900, LOC129997901, LOC129997902, LOC129997903, LOC129997904, LOC129997905, LOC129997906, LOC129997907, LOC129997908, LOC129997909, LOC129997910, LOC129997911, LOC129997912, LOC129997913, LOC129997914, LOC129997915, LOC129997916, LOC129997917, LOC129997918, LOC129997919, LOC129997920, LOC129997921, LOC129997922, LOC129997923, LOC129997924, LOC129997925, LOC129997926, LOC129997927, LOC129997928, LOC129997929, LOC129997930, LOC129997931, LOC129997932, LOC129997933, LOC129997934, LOC129997935, LOC129997936, LOC129997937, LOC129997938, LOC129997939, LOC129997940, LOC129997941, LOC129997942, LOC129997943, LOC129997944, LOC129997945, LOC129997946, LOC129997947, LOC129997948, LOC129997949, LOC129997950, LOC129997951, LOC129997952, LOC129997953, LOC129997954, LOC129997955, LOC129997956, LOC129997957, LOC129997958, LOC129997959, LOC129997960, LOC129997961, LOC129997962, LOC129997963, LOC129997964, LOC129997965, LOC129997966, LOC129997967, LOC129997968, LOC129997969, LOC129997970, LOC129997971, LOC129997972, LOC129997973, LOC129997974, LOC129997975, LOC129997976, LOC129997977, LOC129997978, LOC129997979, LOC129997980, LOC129997981, LOC129997982, LOC129997983, LOC129997984, LOC129997985, LOC129997986, LOC129997987, LOC129997988, LOC129997989, LOC129997990, LOC129997991, LOC129997992, LOC129997993, LOC129997994, LOC129997995, LOC129997996, LOC129997997, LOC129997998, LOC129997999, LOC129998000, LOC129998001, LOC129998002, LOC129998003, LOC129998004, LOC129998005, LOC129998006, LOC129998007, LOC129998008, LOC129998009, LOC129998010, LOC129998011, LOC129998012, LOC129998013, LOC129998014, LOC129998015, LOC129998016, LOC129998017, LOC129998018, LOC129998019, LOC129998020, LOC129998021, LOC129998022, LOC129998023, LOC129998024, LOC129998025, LOC129998026, LOC129998027, LOC129998028, LOC129998029, LOC129998030, LOC129998031, LOC129998032, LOC129998033, LOC129998034, LOC129998035, LOC129998036, LOC129998037, LOC129998038, LOC129998039, LOC129998040, LOC129998041, LOC129998042, LOC129998043, LOC129998044, LOC129998045, LOC129998046, LOC129998047, LOC129998048, LOC129998049, LOC129998050, LOC129998051, LOC129998052, LOC129998053, LOC129998054, LOC129998055, LOC129998056, LOC129998057, LOC129998058, LOC129998059, LOC129998060, LOC129998061, LOC129998062, LOC129998063, LOC129998064, LOC129998065, LOC129998066, LOC129998067, LOC129998068, LOC129998069, LOC129998070, LOC129998071, LOC129998072, LOC129998073, LOC129998074, LOC129998075, LOC129998076, LOC129998077, LOC129998078, LOC129998079, LOC129998080, LOC129998081, LOC129998082, LOC129998083, LOC129998084, LOC129998085, LOC129998086, LOC129998087, LOC129998088, LOC129998089, LOC129998090, LOC129998091, LOC129998092, LOC129998093, LOC129998094, LOC129998095, LOC129998096, LOC129998097, LOC129998098, LOC129998099, LOC129998100, LOC129998101, LOC129998102, LOC129998103, LOC129998104, LOC129998105, LOC129998106, LOC129998107, LOC129998108, LOC129998109, LOC129998110, LOC129998111, LOC129998112, LOC129998113, LOC129998114, LOC129998115, LOC129998116, LOC129998117, LOC129998118, LOC129998119, LOC129998120, LOC129998121, LOC129998122, LOC129998123, LOC129998124, LOC129998125, LOC129998126, LOC129998127, LOC129998128, LOC129998129, LOC129998130, LOC129998131, LOC129998132, LOC129998133, LOC129998134, LOC129998135, LOC129998136, LOC129998137, LOC129998138, LOC129998139, LOC129998140, LOC129998141, LOC129998142, LOC129998143, LOC129998144, LOC129998145, LOC129998146, LOC129998147, LOC129998148, LOC129998149, LOC129998150, LOC129998151, LOC129998152, LOC129998153, LOC129998154, LOC129998155, LOC129998156, LOC129998157, LOC129998158, LOC129998159, LOC129998160, LOC129998161, LOC129998162, LOC129998163, LOC129998164, LOC129998165, LOC129998166, LOC129998167, LOC129998168, LOC129998169, LOC129998170, LOC129998171, LOC129998172, LOC129998173, LOC129998174, LOC129998175, LOC129998176, LOC129998177, LOC129998178, LOC129998179, LOC129998180, LOC129998181, LOC129998182, LOC129998183, LOC129998184, LOC129998185, LOC129998186, LOC129998187, LOC129998188, LOC129998189, LOC129998190, LOC129998191, LOC129998192, LOC129998193, LOC129998194, LOC129998195, LOC129998196, LOC129998197, LOC129998198, LOC129998199, LOC129998200, LOC129998201, LOC129998202, LOC129998203, LOC129998204, LOC129998205, LOC129998206, LOC129998207, LOC129998208, LOC129998209, LOC129998210, LOC129998211, LOC129998212, LOC129998213, LOC129998214, LOC129998215, LOC129998216, LOC129998217, LOC129998218, LOC129998219, LOC129998220, LOC129998221, LOC129998222, LOC129998223, LOC129998224, LOC129998225, LOC129998226, LOC129998227, LOC129998228, LOC129998229, LOC129998230, LOC129998231, LOC129998232, LOC129998233, LOC129998234, LOC129998235, LOC129998236, LOC129998237, LOC129998238, LOC129998239, LOC129998240, LOC129998241, LOC129998242, LOC129998243, LOC129998244, LOC129998245, LOC129998246, LOC129998247, LOC129998248, LOC129998249, LOC129998250, LOC129998251, LOC129998252, LOC132089504, LOC132089513, LOC132089521, LOC132089522, LOC132089523, LOC132089524, LOC132090775, LOC132090776)

Information

Genome

Assembly Position
hg19 chr7:54,185-37,129,317
hg38 chr7:54,185-37,089,712 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance Pathogenic
Review star
Show details
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.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-08-12 criteria provided, single submitter not provided Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 AND See cases ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr7:54,185-37,129,317
Variant Type
cnv
Genome browser