GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 Detail (hg19) (ADM, AP2A2, AMPD3, APBB1, RHOG, BMAL1, ART1, ASCL2, CALCA, CALCB, CARS1, CCKBR, CD81, CD151, CDKN1C, TPP1, CNGA4, COPB1, CTSD, DRD4, DUSP8, EIF4G2, GTF2H1, HBB, HBD, HBE1, HBG1, HBG2, HPX, HRAS, IGF2, ILK, INS, IRF7, KCNC1, KCNJ11, KCNQ1, LDHA, LDHC, LMO1, LSP1, MUC2, MUC5AC, MUC6, MYOD1, NAP1L4, NUCB2, NUP98, SLC22A18, SLC22A18AS, PDE3B, PIK3C2A, POLR2L, PSMA1, PTH, RNH1, MRPL23, RPL27A, RPLP2, RPS13, RRM1, SAA1, SAA2, SAA4, SCT, SMPD1, TRIM21, DENND2B, STIM1, ABCC8, TAF10, TALDO1, TEAD1, TH, TSPAN4, TNNI2, TNNT3, TPH1, TSG101, PHLDA2, TUB, WEE1, ZNF143, ZNF195, ZNF214, ZNF215, RASSF7, PPFIBP2, OR6A2, DCHS1, EIF3F, BRSK2, MICAL2, CTR9, TRIM66, TSPAN32, TSSC4, USH1C, IRAG1, TRIM22, SPON1, DEAF1, IPO7, TRIM3, LYVE1, C11orf58, KCNQ1OT1, HPS5, RRAS2, SWAP70, DENND5A, RRP8, OR52A1, ARFIP2, SERGEF, OR10A3, TIMM10B, SNORD14A, DKK3, RBMXL2, PGAP2, C11orf21, TRPM5, UBQLN3, RNF141, IGF2-AS, CEND1, CYB5R2, TRIM34, CDHR5, TOLLIP, USP47, TRIM68, UEVLD, PIDD1, KCNQ1DN, SOX6, PARVA, MMP26, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, CHRNA10, PNPLA2, PHRF1, SCUBE2, ZBED5, MRPL17, EPS8L2, STK33, CHID1, OR52E1, OR51G1, OR51B4, OR51B2, OR51J1, OR52N1, RIC3, SLC25A22, OR52P1, OR51G2, OR51E2, PTDSS2, MOB2, SBF2, FHIP1B, FAR1, BTBD10, PTPN5, TRIM5, SNORD14B, SYT8, CAVIN3, SAAL1, OSBPL5, LRRC56, MRGPRE, ART5, MRGPRX3, MRGPRX4, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, OR52M1, OR52K2, OR5P2, OR5P3, CYP2R1, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, OR52B4, C11orf40, OR52I2, OR51E1, SSU72L3, UBQLNL, LOC143666, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, LDHAL6A, C11orf42, GATD1-DT, SSU72L5, OR56B4, TOLLIP-DT, OR52B2, LMNTD2, OR51F1, OR51B5, SBF2-AS1, CSNK2A3, OR51V1, H19, CRACR2B, TMEM80, IGSF22, OR10A4, OLFML1, LOC283299, MRGPRG-AS1, NLRP10, NLRP14, KRTAP5-AS1, KCNQ1-AS1, OR52L1, OR2AG2, OR52B6, OTOG, OR10A2, OVCH2, GATD1, GALNT18, NCR3LG1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, FAM99A, OR56B1, INSC, SSU72L2, SSU72L1, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR56B2P, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR52E5, OR56A3, OR56A5, OR10A6, OR51C1P, OR51T1, OR51A4, OR51A2, IFITM10, MIR210, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, LINC02709, SSU72L4, TMEM9B-AS1, MIR483, SNORA3A, SNORA52, LOC644656, RASSF10, SNORA23, SNORA3B, SNORA54, SNORD97, LMNTD2-AS1, INS-IGF2, MUC5B, ZBED5-AS1, MIR675, IRAG1-AS1, CAND1.11, FAM99B, MRPL23-AS1, TRL-CAA5-1, MIR302E, MIR3159, MIR4298, MIR4299, MTRNR2L8, LINC02708, LINC02749, MIR210HG, SYT9-AS1, LINC00958, MISFA, SAA2-SAA4, MIR4686, MIR4485, MIR4687, MIR5691, CARS1-AS1, PANO1, LINC02688, LINC01150, CD81-AS1, LOC101927708, TUB-AS1, RIC3-DT, LOC101928008, LOC101928053, LINC02683, MIR6073, MIR8070, MIR7847, MIR6744, MIR6124, LINC02729, PRR33, DENND2B-AS1, BGLT3, CASC23, LINC01219, HBB-3'HS1, H19-ICR, LOC105274310, LOC105369149, LOC105376526, STIM1-AS1, NRIP3-DT, ADM-DT, LINC02752, LINC02547, RASSF10-DT, LINC02545, LINC02548, LINC02751, LINC02682, HBB-HS-111, LOC106099062, LOC106099063, LOC106099064, LOC106099065, SNORD131, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108254681, LOC108281125, HBB-LCR, SNORD147, LOC109623489, A-GAMMA3'E, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, HS-E1, HBB-HS-107, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, MUC5B-AS1, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216127, LOC116216128, LOC116216129, IGSF22-AS1, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC121392891, LOC121392892, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC121832787, LOC121832788, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124421487, LOC124421488, LOC124421489, LOC124421490, LOC124421491, LOC124421492, LOC124421493, LOC124421494, LOC124421495, LOC124421496, LOC124421497, LOC124421498, LOC124421499, LOC124421500, LOC124421501, LOC124421502, LOC124421503, LOC124902806, LINC02989, PRADX, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC126861140, LOC126861141, LOC126861142, LOC126861143, LOC126861144, LOC126861145, LOC126861146, LOC126861147, LOC126861148, LOC126861149, LOC126861150, LOC126861151, LOC126861152, LOC126861153, LOC126861154, LOC128772342, LOC128772343, LOC128772344, LOC128772345, LOC128772346, LOC129388416, LOC129388417, LOC129390246, LOC129390247, LOC129390248, LOC129390249, LOC129390250, LOC129390251, LOC129390252, LOC129390253, LOC129390254, LOC129390255, LOC129390256, LOC129390257, LOC129390258, LOC129390259, LOC129390260, LOC129390261, LOC129390262, LOC129390263, LOC129390264, LOC129390265, LOC129390266, LOC129390267, LOC129390268, LOC129390269, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC130005080, LOC130005081, LOC130005082, LOC130005083, LOC130005084, LOC130005085, LOC130005086, LOC130005087, LOC130005088, LOC130005089, LOC130005090, LOC130005091, LOC130005092, LOC130005093, LOC130005094, LOC130005095, LOC130005096, LOC130005097, LOC130005098, LOC130005099, LOC130005100, LOC130005101, LOC130005102, LOC130005103, LOC130005104, LOC130005105, LOC130005106, LOC130005107, LOC130005108, LOC130005109, LOC130005110, LOC130005111, LOC130005112, LOC130005113, LOC130005114, LOC130005115, LOC130005116, LOC130005117, LOC130005118, LOC130005119, LOC130005120, LOC130005121, LOC130005122, LOC130005123, LOC130005124, LOC130005125, LOC130005126, LOC130005127, LOC130005128, LOC130005129, LOC130005130, LOC130005131, LOC130005132, LOC130005133, LOC130005134, LOC130005135, LOC130005136, LOC130005137, LOC130005138, LOC130005139, LOC130005140, LOC130005141, LOC130005142, LOC130005143, LOC130005144, LOC130005145, LOC130005146, LOC130005147, LOC130005148, LOC130005149, LOC130005150, LOC130005151, LOC130005152, LOC130005153, LOC130005154, LOC130005155, LOC130005156, LOC130005157, LOC130005158, LOC130005159, LOC130005160, LOC130005161, LOC130005162, LOC130005163, LOC130005164, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, LOC130005174, LOC130005175, LOC130005176, LOC130005177, LOC130005178, LOC130005179, LOC130005180, LOC130005181, LOC130005182, LOC130005183, LOC130005184, LOC130005185, LOC130005186, LOC130005187, LOC130005188, LOC130005189, LOC130005190, LOC130005191, LOC130005192, LOC130005193, LOC130005194, LOC130005195, LOC130005196, LOC130005197, LOC130005198, LOC130005199, LOC130005200, LOC130005201, LOC130005202, LOC130005203, LOC130005204, LOC130005205, LOC130005206, LOC130005207, LOC130005208, LOC130005209, LOC130005210, LOC130005211, LOC130005212, LOC130005213, LOC130005214, LOC130005215, LOC130005216, LOC130005217, LOC130005218, LOC130005219, LOC130005220, LOC130005221, LOC130005222, LOC130005223, LOC130005224, LOC130005225, LOC130005226, LOC130005227, LOC130005228, LOC130005229, LOC130005230, LOC130005231, LOC130005232, LOC130005233, LOC130005234, LOC130005235, LOC130005236, LOC130005237, LOC130005238, LOC130005239, LOC130005240, LOC130005241, LOC130005242, LOC130005243, LOC130005244, LOC130005245, LOC130005246, LOC130005247, LOC130005248, LOC130005249, LOC130005250, LOC130005251, LOC130005252, LOC130005253, LOC130005254, LOC130005255, LOC130005256, LOC130005257, LOC130005258, LOC130005259, LOC130005260, LOC130005261, LOC130005262, LOC130005263, LOC130005264, LOC130005265, LOC130005266, LOC130005267, LOC130005268, LOC130005269, LOC130005270, LOC130005271, LOC130005272, LOC130005273, LOC130005274, LOC130005275, LOC130005276, LOC130005277, LOC130005278, LOC130005279, LOC130005280, LOC130005281, LOC130005282, LOC130005283, LOC130005284, LOC130005285, LOC130005286, LOC130005287, LOC130005288, LOC130005289, LOC130005290, LOC130005291, LOC130005292, LOC130005293, LOC130005294, LOC130005295, LOC130005296, LOC130005297, LOC130005298, LOC130005299, LOC130005300, LOC130005301, LOC130005302, LOC130005303, LOC130005304, LOC130005305, LOC130005306, LOC130005307, LOC130005308, LOC130005309, LOC130005310, LOC130005311, LOC130005312, LOC130005313, LOC130005314, LOC130005315, LOC130005316, LOC130005317, LOC130005318, LOC130005319, LOC130005320, LOC130005321, LOC130005322, LOC130005323, LOC130005324, LOC130005325, LOC130005326, LOC130005327, LOC130005328, LOC130005329, LOC130005330, LOC130005331, LOC130005332, LOC130005333, LOC130005334, LOC130005335, LOC130005336, LOC130005337, LOC130005338, LOC130005339, LOC130005340, LOC130005341, LOC130005342, LOC130005343, LOC130005344, LOC130005345, LOC130005346, LOC130005347, LOC130005348, LOC130005349, LOC130005350, LOC130005351, LOC130005352, LOC130005353, LOC130005354, LOC130005355, LOC130005356, LOC130005357, LOC130005358, LOC130005359, LOC130005360, LOC130005361, LOC130005362, LOC130005363, LOC130005364, LOC130005365, LOC130005366, LOC130005367, LOC130005368, LOC130005369, LOC130005370, LOC130005371, LOC130005372, LOC130005373, LOC130005374, LOC130005375, LOC130005376, LOC130005377, LOC130005378, LOC130005379, LOC130005380, LOC130005381, LOC130005382, LOC130005383, LOC130005384, LOC130005385, LOC130005386, LOC130005387, LOC130005388, LOC130005389, LOC130005390, LOC130005391, LOC130005392, LOC130005393, LOC130005394, LOC130005395, LOC130005396, LOC130005397, LOC130005398, LOC130005399, LOC130005400, LOC130005401, LOC130005402, LOC130005403, LOC130005404, LOC130005405, LOC130005406, LOC130005407, LOC130005408, LOC130005409, LOC130005410, LOC130005411, LOC130005412, LOC130005413, LOC130005414, LOC130005415, LOC130005416, LOC130005417, LOC130005418, LOC130005419, LOC132089897, LOC132089898, LOC132089899, LOC132089927, LOC132089930, LOC132089931, LOC132090831, LOC132090832, LOC132090833)

Information

Genome

Assembly Position
hg19 chr11:446,754-18,926,289
hg38 chr11:446,754-18,904,742 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 2010-04-30 no assertion criteria provided not provided Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)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
chr11:446,754-18,926,289
Variant Type
cnv
Genome browser