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Variant : CV383240 (GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3) Homo sapiens

Symbol: CV383240
Name: GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3
Condition: See cases [RCV000447658]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD12B   ACIN1   ADCY4   AJUBA   AKAP6   AP1G2   AP4S1   ARF6   ARHGAP5   ATL1   BAZ1A   BCL2L2   BCL2L2-PABPN1   BMP4   BRMS1L   C14orf119   C14orf28   C14orf93   CARMIL3   CBLN3   CDH24   CDKL1   CEBPE   CFL2   CHMP4A   CIDEB   CLEC14A   CMA1   CMTM5   COCH   CPNE6   CTSG   DCAF11   DDHD1   DHRS1   DHRS2   DHRS4   DHRS4L1   DHRS4L2   DMAC2L   DNAAF2   DTD2   EAPP   EFS   EGLN3   EMC9   ERO1A   FAM177A1   FANCM   FBXO33   FERMT2   FITM1   FKBP3   FOXA1   FOXG1   FRMD6   FSCB   G2E3   GEMIN2   GMPR2   GNG2   GNPNAT1   GPR137C   GPR33   GZMB   GZMH   HAUS4   HEATR5A   HECTD1   HOMEZ   IL25   INSM2   IPO4   IRF9   JPH4   KHNYN   KLHDC1   KLHDC2   KLHL28   L2HGDH   LINC00596   LINC01588   LINC01599   LRFN5   LRP10   LRR1   LTB4R   LTB4R2   MAP4K5   MBIP   MDGA2   MDP1   MGAT2   MIPOL1   MIR208A   MIR208B   MIS18BP1   MMP14   MRPL52   MYH6   MYH7   NEDD8   NEDD8-MDP1   NEMF   NFATC4   NFKBIA   NGDN   NID2   NIN   NKX2-1   NKX2-8   NOP9   NOVA1   NPAS3   NRL   NUBPL   NYNRIN   OXA1L   PABPN1   PAX9   PCK2   PNN   POLE2   PPP1R3E   PPP2R3C   PRKD1   PRMT5   PRORP   PRPF39   PSMA6   PSMB11   PSMB5   PSMC6   PSME1   PSME2   PTCSC3   PTGDR   PTGER2   PYGL   RABGGTA   RALGAPA1   RBM23   REC8   REM2   RIPK3   RN7SL1   RN7SL2   RN7SL3   RNF212B   RNF31   RPL10L   RPL36AL   RPS29   RTRAF   SAV1   SCFD1   SDR39U1   SEC23A   SFTA3   SLC22A17   SLC25A21   SLC7A7   SLC7A8   SNX6   SOS2   SPTSSA   SRP54   SSTR1   STRN3   STXBP6   STYX   TGM1   THTPA   TINF2   TM9SF1   TMX1   TOGARAM1   TRAPPC6B   TRIM9   TSSK4   TTC6   TXNDC16   VCPKMT   ZFHX2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371423,164,384 - 54,733,411CLINVAR
Cytogenetic Map1414q11.2-22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852372
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.