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Variant : CV244060 (NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv) Homo sapiens

Symbol: CV244060
Name: NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
Condition: Speech-language disorder 1 [RCV000234948]
Clinical Significance: pathogenic
Last Evaluated: 03/02/2016
Review Status: no assertion criteria provided
Related Genes: ABCA13   ABCB1   ABCB4   ABHD11   ABHD11-AS1   ACHE   ACTL6B   ADAM22   ADCY1   ADCYAP1R1   AEBP1   AGFG2   AKAP9   ALKBH4   AMPH   ANKIB1   ANLN   AOAH   AP1S1   AP4M1   AQP1   ARMC10   ARPC1A   ARPC1B   ASB4   ASL   ASNS   ATP5MF   ATP5MF-PTCD1   ATXN7L1   AUTS2   AVL9   AZGP1   BAIAP2L1   BAZ1B   BBS9   BCAP29   BCL7B   BET1   BHLHA15   BLVRA   BMPER   BMT2   BRI3   BUD23   BUD31   C7orf25   C7orf31   C7orf57   C7orf61   C7orf65   C7orf66   C7orf69   CACNA2D1   CALCR   CALN1   CAMK2B   CASD1   CASTOR2   CASTOR3   CBLL1   CBX3   CCDC126   CCDC146   CCDC71L   CCL24   CCL26   CCM2   CCT6A   CD36   CDCA7L   CDHR3   CDK13   CDK14   CDK6   CFAP69   CHCHD2   CHN2   CLDN12   CLDN15   CLDN3   CLDN4   CLIP2   CNPY4   COA1   COBL   COG5   COL1A2   COL26A1   COPS6   CPSF4   CPVL   CRCP   CREB5   CRHR2   CROT   CUX1   CYCS   CYP3A4   CYP3A43   CYP3A5   CYP3A7   CYP51A1   CYP51A1-AS1   DBF4   DBNL   DDC   DDX56   DLD   DLX5   DLX6   DMTF1   DNAH11   DNAJB9   DNAJC2   DNAJC30   DOCK4   DPY19L1   DTX2   DUS4L   DYNC1I1   EEPD1   EGFR   EIF4H   ELMO1   ELN   EPDR1   EPHB4   EPO   ERV3-1   ERVW-1   EVX1   FAM126A   FAM133B   FAM185A   FAM200A   FAM221A   FBXL13   FBXO24   FGL2   FIGNL1   FIS1   FKBP14   FKBP6   FKBP9   FOXP2   FZD1   FZD9   GAL3ST4   GALNT17   GARS1   GATAD1   GCK   GGCT   GHRHR   GIGYF1   GJC3   GLI3   GNAI1   GNAT3   GNB2   GNG11   GNGT1   GPC2   GPNMB   GPR141   GPR22   GPR85   GRB10   GRM3   GSAP   GSDME   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   GTPBP10   GUSB   H2AZ2   HBP1   HECW1   HECW1-IT1   HEPACAM2   HERPUD2   HGF   HIBADH   HIP1   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   HSPB1   HUS1   IFRD1   IFT22   IGF2BP3   IGFBP1   IGFBP3   IKZF1   IL6   IL6-AS1   IMMP2L   INHBA   INMT   ITPRID1   JAZF1   KBTBD2   KCTD7   KIAA0895   KIAA1324L   KLHL7   KLHL7-DT   KMT2E   KPNA7   KRIT1   LAMB1   LAMB4   LAMTOR4   LANCL2   LAT2   LHFPL3   LIMK1   LINC00972   LINC02860   LMTK2   LRCH4   LRRC17   LRRD1   LRRN3   LRWD1   LSM5   LSMEM1   MAGI2   MALSU1   MAP11   MBLAC1   MCM7   MDH2   MEPCE   METTL27   MINDY4   MIR106B   MIR148A   MIR196B   MIR25   MIR489   MIR590   MIR93   MLXIPL   MOGAT3   MOSPD3   MPLKIP   MPP6   MRPL32   MRPS17   MRPS24   MTERF1   MTURN   MUC12   MUC17   MUC3A   MYL10   MYL7   MYO1G   NACAD   NAMPT   NAPEPLD   NAT16   NCF1   NEUROD6   NFE2L3   NFE4   NIPSNAP2   NME8   NOD1   NPC1L1   NPSR1   NPSR1-AS1   NPTX2   NPVF   NPY   NRCAM   NSUN5   NT5C3A   NUDCD3   NUP42   NUPR2   NYAP1   OCM2   OGDH   OR2AE1   ORAI2   ORC5   OSBPL3   PCLO   PCOLCE   PDAP1   PDE1C   PDK4   PEG10   PEX1   PGAM2   PHKG1   PHTF2   PIK3CG   PILRA   PKD1L1   PLEKHA8   PLOD3   PMPCB   PNPLA8   POLD2   POLM   POLR2J   POLR2J2   POLR2J3   POM121   POM121C   POM121L12   POMZP3   PON1   PON2   PON3   POP7   POR   POU6F2   PPIA   PPP1R17   PPP1R35   PPP1R3A   PPP1R9A   PRKAR2B   PRKRIP1   PRR15   PSMA2   PSMC2   PSPH   PTCD1   PTPN12   PURB   PUS7   PVRIG   RABGEF1   RALA   RAMP3   RAPGEF5   RASA4   RASA4B   RBM48   RCC1L   RELN   RFC2   RHBDD2   RINT1   RP9   RSBN1L   RUNDC3B   SAMD9   SAMD9L   SAP25   SBDS   SCRN1   SDHAF3   SEC61G   SEM1   SEMA3A   SEMA3C   SEMA3D   SEMA3E   SEPTIN14   SEPTIN7   SERPINE1   SFRP4   SGCE   SH2B2   SKAP2   SLC12A9   SLC25A13   SLC25A40   SLC26A3   SLC26A4   SLC26A5   SMURF1   SNHG15   SNORA5C   SNX10   SP4   SPATA48   SPDYE1   SPDYE2   SPDYE2B   SPDYE3   SPDYE5   SPDYE6   SRI   SRPK2   SRRM3   SRRT   SSC4D   STAG3   STARD3NL   STEAP1   STEAP1B   STEAP2   STEAP4   STK17A   STK31   STX1A   STYXL1   SUGCT   SUMF2   SUN3   SYPL1   TAC1   TAF6   TARP   TAX1BP1   TBL2   TBRG4   TBX20   TECPR1   TEX47   TFPI2   TFR2   THAP5   TMED4   TMEM120A   TMEM130   TMEM168   TMEM243   TMEM248   TMEM270   TMEM60   TNS3   TOMM7   TPST1   TRA2A   TRIL   TRIM4   TRIM50   TRIM56   TRIM73   TRIM74   TRIP6   TRRAP   TSC22D4   TYW1   TYW1B   UBE2D4   UFSP1   UPK3BL1   UPP1   URGCP   VGF   VKORC1L1   VOPP1   VPS37D   VPS41   VPS50   VSTM2A   VWC2   WIPF3   YAE1   YKT6   YWHAG   ZAN   ZCWPW1   ZKSCAN1   ZKSCAN5   ZMIZ2   ZNF107   ZNF117   ZNF138   ZNF273   ZNF277   ZNF3   ZNF394   ZNF479   ZNF655   ZNF679   ZNF680   ZNF713   ZNF716   ZNF727   ZNF735   ZNF736   ZNF789   ZNF804B   ZNF92   ZNHIT1   ZNRF2   ZP3   ZPBP   ZSCAN21   ZSCAN25  
Variant Type: inversion (SO:1000036)
Source: CLINVAR
Evidence: literature only
HGVS Name(s): NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
Position
Human AssemblyChrPosition (strand)Source
GRCh37721,001,537 - 114,528,369CLINVAR
Cytogenetic Map77p15.3-q31.1CLINVAR
Trait Synonyms: CHILDHOOD APRAXIA OF SPEECH; DEVELOPMENTAL VERBAL DYSPRAXIA; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11522825
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.