Single allele AND Syndromic X-linked intellectual disability Lubs type Detail (hg19) (ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, SLC25A5, XIAP, AR, ARAF, ARHGAP4, ARR3, ATP2B3, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN5, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DLG3, DMD, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, F9, ACSL4, GPC4, FGD1, FGF13, FHL1, VEGFD, FMR1, AFF2, CENPI, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GJB1, GK, GLA, GPC3, GLUD2, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, FOXO4, CITED1, MSN, MTM1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRPS1, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, SERPINA7, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, WAS, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, TMEM187, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, RTL8C, SLC25A14, CLDN2, RGN, AIFM1, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPTIN6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, H2AP, RTL8A, IL1RAPL2, ITGB1BP2, SRPK3, GAGE12I, GAGE2E, BEX3, NOX1, NALF2, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, ARMCX1, MBTPS2, MAGEC2, VGLL1, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, CT55, TMEM255A, RADX, NUDT11, RBM41, SAGE1, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, CLTRN, SHROOM4, KIAA1210, PCDH19, RTL9, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, EDA2R, NYX, BCORL1, DUSP21, STEEP1, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, PRRG3, APOO, HMGN5, NKAP, RNF128, MAP7D3, MORC4, DIPK2B, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, TASL, EFHC2, KLHL15, ESX1, GPRASP3, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, VCF2, PAGE5, TCEAL8, CHRDL1, EOLA1, CCNQ, RIPPLY1, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, DNAAF6, PWWP3B, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, CBLL2, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BW1, CXorf38, PABIR2, PABIR3, DDX53, TENT5D, SPIN3, FAM47B, SUPT20HL2, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, CT83, LINC01560, SLC25A43, RTL3, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, BRWD3, CXorf58, CT47A11, BCLAF3, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX7, RAB40AL, ATP11C, H2BW2, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RTL5, NHSL2, PABPC1L2A, NEXMIF, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, RTL4, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, RTL8B, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, EOLA2, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, MAGEB17, PABPC1L2B, PNMA6E, XAGE1B, XAGE1A, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, CXorf49B, CXorf51B, FTX, TRPC5OS, MTRNR2L10, HSFX1, CT47A12, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:15,323,210-153,542,100 |
hg38 | chrX:15,305,088-154,313,750 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
ClinVar
Clinical Significance |
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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 |
---|---|---|---|---|---|
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no assertion criteria provided | syndromic X-linked intellectual disability Lubs type |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Single allele AND Syndromic X-linked intellectual disability Lubs type | 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
- chrX:15,323,210-153,542,100
- Variant Type
- cnv
Genome browser