GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 Detail (hg19) (ATP5F1E, BMP7, CD40, CDH4, CEBPB, CHRNA4, COL9A3, CSE1L, CSTF1, CTSZ, CYP24A1, EDN3, EEF1A2, EYA2, GNAS, NPBWR2, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, MC3R, MMP9, MYT1, NFATC2, NTSR1, OPRL1, PCK1, PFDN4, PI3, PLTP, CTSA, PPP1R3D, PSMA7, PTGIS, PTK6, PTPN1, RPS21, SDC4, SEMG1, SEMG2, SLPI, SNAI1, SRMS, STAU1, STK4, AURKA, TAF4, TCEA2, TFAP2C, TNNC2, TPD52L2, UBE2V1, YWHAB, ZNF217, NCOA3, RAE1, BCAS1, STX16, TNFRSF6B, MATN4, DPM1, VAPB, B4GALT5, SPATA2, OSBPL2, ACOT8, ATP9A, ARFRP1, RGS19, SYCP2, WFDC2, ARFGEF2, TCFL5, SPINT3, TOMM34, ADRM1, OGFR, UBE2C, DIDO1, HRH3, RBPJL, SLC9A8, ADNP, ZMYND8, SPO11, PRPF6, SS18L1, MTG2, GMEB2, SNORD12C, TP53TG5, MOCS3, SLCO4A1, STMN3, SLC35C2, PRELID3B, NELFCD, RTF2, PIGT, RTEL1, SOX18, YTHDF1, LIME1, UCKL1, GID8, PCMTD2, MRGBP, RBM38, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, DOK5, DBNDD2, RNF114, SULF2, SLC2A4RG, PMEPA1, CASS4, EPPIN, SALL4, ZNFX1, RAB22A, SLC12A5, ZNF512B, PREX1, COL20A1, NCOA5, CDH26, SLC17A9, ELMO2, ZNF335, LINC01749, PCIF1, FAM217B, CDH22, SLC13A3, FNDC11, PPDPF, LINC01711, BIRC7, NPEPL1, DNAJC5, PABPC1L, TUBB1, ZBP1, SLC2A10, CABLES2, PARD6B, ZGPAT, HELZ2, SYS1, WFDC8, SNX21, ZSWIM1, TP53RK, DNTTIP1, FAM210B, PHACTR3, BHLHE23, NKAIN4, WFDC12, SPATA25, OCSTAMP, TSHZ2, CIMIP1, ZNF831, MIR1-1HG, GATA5, ZBTB46, WFDC3, GCNT7, CBLN4, CTCFL, SAMD10, ABHD16B, RIMS4, ANKRD60, NEURL2, ZSWIM3, WFDC10A, WFDC6, RIPOR3, RBBP8NL, WFDC5, APCDD1L-DT, GNAS-AS1, LSM14B, WFDC13, APCDD1L, LKAAEAR1, FAM209A, CRMA, WFDC11, WFDC9, WFDC10B, C20orf204, LINC00494, LINC01270, LINC02910, MIR646HG, PEDS1, PEDS1-UBE2V1, FAM209B, SPINT4, MIR1-1, MIR124-3, MIR133A2, MIR296, ZFAS1, SNORD12, MIR645, MIR646, MIR647, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128310, C20orf181, LOC100130587, LOC100131496, LINC00029, LINC01056, FLJ16779, RBM38-AS1, MIR1914, MIR1302-5, MIR1257, MIR3195, MIR4325, MIR3194, MIR4326, MIR3196, MTRNR2L3, MIR3616, MIR3617, MHENCR, STK4-DT, PELATON, RIPOR3-AS1, PHACTR3-AS1, LINC01718, EPPIN-WFDC6, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR4756, MIR4758, MIR4533, MIR548AG2, LINC00659, TRERNA1, LINC01523, OGFR-AS1, EYA2-AS1, LOC101927377, LINC01522, LINC01275, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, ZNF217-AS1, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, SLCO4A1-AS2, ZBTB46-AS1, LINC02597, MIR6812, MIR6813, LINC01754, CSE1L-DT, LINC01440, BMP7-AS1, MIR941-5, LOC105369209, LOC105372631, LOC105372633, LOC105372653, LOC105372669, LOC105372672, LINC01716, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LINC02970, KCNQ2-AS1, LINC01742, NKILA, LOC107985388, LOC108281116, LOC109461473, LOC109621227, SNORA117, SLC12A5-AS1, LOC110121370, LOC110121454, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268269, LOC112268270, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, MIR12122, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC116286206, LOC116286207, LOC116286208, LOC116286209, TP53RK-DT, LOC120285836, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853008, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, ZBTB46-AS2, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, RPS21-DT, LOC128772425, LOC128772426, LOC129391180, LOC129391181, LOC129391182, LOC129391183, LOC129391184, LOC129391185, LOC129391186, LOC129391187, LOC129391188, LOC129391189, LOC129391190, LOC129391191, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456124, LOC130065944, LOC130065945, LOC130065946, LOC130065947, LOC130065948, LOC130065949, LOC130065950, LOC130065951, LOC130065952, LOC130065953, LOC130065954, LOC130065955, LOC130065956, LOC130065957, LOC130065958, LOC130065959, LOC130065960, LOC130065961, LOC130065962, LOC130065963, LOC130065964, LOC130065965, LOC130065966, LOC130065967, LOC130065968, LOC130065969, LOC130065970, LOC130065971, LOC130065972, LOC130065973, LOC130065974, LOC130065975, LOC130065976, LOC130065977, LOC130065978, LOC130065979, LOC130065980, LOC130065981, LOC130065982, LOC130065983, LOC130065984, LOC130065985, LOC130065986, LOC130065987, LOC130065988, LOC130065989, LOC130065990, LOC130065991, LOC130065992, LOC130065993, LOC130065994, LOC130065995, LOC130065996, LOC130065997, LOC130065998, LOC130065999, LOC130066000, LOC130066001, LOC130066002, LOC130066003, LOC130066004, LOC130066005, LOC130066006, LOC130066007, LOC130066008, LOC130066009, LOC130066010, LOC130066011, LOC130066012, LOC130066013, LOC130066014, LOC130066015, LOC130066016, LOC130066017, LOC130066018, LOC130066019, LOC130066020, LOC130066021, LOC130066022, LOC130066023, LOC130066024, LOC130066025, LOC130066026, LOC130066027, LOC130066028, LOC130066029, LOC130066030, LOC130066031, LOC130066032, LOC130066033, LOC130066034, LOC130066035, LOC130066036, LOC130066037, LOC130066038, LOC130066039, LOC130066040, LOC130066041, LOC130066042, LOC130066043, LOC130066044, LOC130066045, LOC130066046, LOC130066047, LOC130066048, LOC130066049, LOC130066050, LOC130066051, LOC130066052, LOC130066053, LOC130066054, LOC130066055, LOC130066056, LOC130066057, LOC130066058, LOC130066059, LOC130066060, LOC130066061, LOC130066062, LOC130066063, LOC130066064, LOC130066065, LOC130066066, LOC130066067, LOC130066068, LOC130066069, LOC130066070, LOC130066071, LOC130066072, LOC130066073, LOC130066074, LOC130066075, LOC130066076, LOC130066077, LOC130066078, LOC130066079, LOC130066080, LOC130066081, LOC130066082, LOC130066083, LOC130066084, LOC130066085, LOC130066086, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, LOC130066092, LOC130066093, LOC130066094, LOC130066095, LOC130066096, LOC130066097, LOC130066098, LOC130066099, LOC130066100, LOC130066101, LOC130066102, LOC130066103, LOC130066104, LOC130066105, LOC130066106, LOC130066107, LOC130066108, LOC130066109, LOC130066110, LOC130066111, LOC130066112, LOC130066113, LOC130066114, LOC130066115, LOC130066116, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090577, LOC132090578, LOC132090579, LOC132090580, LOC132090581, LOC132090582, LOC132090583, LOC132090584, LOC132090585, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915)

Information

Genome

Assembly Position
hg19 chr20:43,416,345-62,908,674
hg38 chr20:44,787,704-64,277,321 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 paternal Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)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
chr20:43,416,345-62,908,674
Variant Type
cnv
Genome browser