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Variant : CV514837 (Single allele) Homo sapiens

Symbol: CV514837
Name: Single allele
Condition: not provided [RCV000714264]
Clinical Significance: likely pathogenic
Last Evaluated: 02/02/2018
Review Status: no assertion criteria provided
Related Genes: AAK1   ABCG5   ABCG8   ACMSD   ACOXL   ACTG2   ACTR1B   ACTR2   ACTR3   ACYP2   ADD2   ADRA2B   AFF3   AFTPH   ALMS1   AMER3   AMMECR1L   ANAPC1   ANKRD23   ANKRD36   ANKRD36B   ANKRD36C   ANKRD39   ANKRD53   ANTXR1   ANXA4   APLF   ARHGAP15   ARHGAP25   ARHGEF4   ARID5A   ASB3   ASPRV1   ASTL   ATOH8   ATP6V1B1   ATP6V1E2   AUP1   B3GNT2   BCL11A   BCL2L11   BCYRN1   BIN1   BMP10   BOLA3   BUB1   C1D   C1QL2   C2orf15   C2orf27A   C2orf27B   C2orf42   C2orf49   C2orf68   C2orf73   C2orf74   C2orf76   C2orf78   C2orf81   C2orf91   CALM2   CAMKMT   CAPG   CBWD2   CCDC115   CCDC138   CCDC142   CCDC74A   CCDC74B   CCDC85A   CCDC88A   CCDC93   CCNT2   CCT4   CCT7   CD207   CD8A   CD8B   CEP68   CFAP36   CFC1   CFC1B   CHAC2   CHCHD5   CHMP3   CHST10   CIAO1   CKAP2L   CLASP1   CLEC4F   CLHC1   CNGA3   CNNM3   CNNM4   CNOT11   CNRIP1   CNTNAP5   COA5   COMMD1   COX5B   COX7A2L   CREG2   CRIPT   CTNNA2   CXCR4   CYP26B1   CYP27C1   DARS1   DBI   DCTN1   DDX18   DGUOK   DNAH6   DOK1   DPP10   DQX1   DUSP11   DUSP2   DYNC2LI1   DYSF   ECRG4   EDAR   EFEMP1   EGR4   EHBP1   EIF2AK3   EIF5B   ELMOD3   EML4   EML6   EMX1   EN1   EPAS1   EPB41L5   EPCAM   ERCC3   ERLEC1   ETAA1   EVA1A   EXOC6B   FABP1   FAHD2A   FAHD2B   FAM136A   FAM161A   FAM168B   FAM178B   FANCL   FBLN7   FBXO11   FBXO41   FBXO48   FER1L5   FHL2   FIGLA   FOXD4L1   FOXI3   FOXN2   FSHR   GCC2   GCFC2   GFPT1   GGCX   GKN1   GKN2   GLI2   GMCL1   GNLY   GPAT2   GPR148   GPR17   GPR39   GPR45   GPR75   GPR75-ASB3   GTDC1   GTF2A1L   GYPC   HAAO   HK2   HNMT   HS6ST1   HTRA2   IGKC   IL18R1   IL18RAP   IL1A   IL1B   IL1F10   IL1R1   IL1R2   IL1RL1   IL1RL2   IL1RN   IL36A   IL36B   IL36G   IL36RN   IL37   IMMT   IMP4   INHBB   INO80B   INPP4A   INSIG2   ITPRIPL1   IWS1   KANSL3   KCMF1   KCNG3   KCNIP3   KCNK12   KDM3A   KIAA1211L   KIAA1841   KRCC1   KYNU   LBX2   LCT   LGALSL   LHCGR   LIMS1   LIMS2   LIMS3   LIMS4   LINC01873   LIPT1   LMAN2L   LONRF2   LOXL3   LRP1B   LRPPRC   LRRTM1   LRRTM4   LYG1   LYG2   LYPD1   M1AP   MAL   MALL   MAP3K19   MAP3K2   MAP4K4   MARCO   MAT2A   MCEE   MCFD2   MCM6   MDH1   MEIS1   MERTK   MFSD9   MGAT4A   MGAT5   MIR128-1   MIR216A   MIR217   MITD1   MOB1A   MOGS   MPHOSPH10   MRPL19   MRPL30   MRPL35   MRPL53   MRPS5   MRPS9   MSH2   MSH2-OT1   MSH6   MTA3   MTHFD2   MTIF2   MXD1   MYO7B   MZT2A   MZT2B   NAGK   NAT8   NAT8B   NCAPH   NCK2   NCKAP5   NFU1   NIFK   NMS   NOTO   NPAS2   NPHP1   NRXN1   NT5DC4   NXPH2   OTX1   OXER1   PAIP2B   PAPOLG   PAX8   PCBP1   PCGF1   PCYOX1   PDCL3   PELI1   PEX13   PIGF   PKDCC   PLEK   PLEKHB2   PLEKHH2   PLGLB1   PNO1   PNPT1   POLE4   POLR1A   POLR1B   POLR2D   POTEE   POTEF   POTEI   POTEJ   POU3F3   PPM1B   PPP1R21   PPP3R1   PPP4R3B   PRADC1   PREPL   PRKCE   PROC   PROKR1   PROM2   PSD4   PSME4   PTCD3   PTPN18   PTPN4   PUS10   R3HDM1   RAB11FIP5   RAB1A   RAB3GAP1   RAB6C   RABL2A   RALB   RANBP2   REEP1   REG1A   REG1B   REG3A   REG3G   REL   RETSAT   REV1   RFX8   RGPD1   RGPD2   RGPD3   RGPD4   RGPD5   RGPD6   RGPD8   RHOQ   RMND5A   RNF103   RNF103-CHMP3   RNF149   RNF181   RNU4ATAC   RPIA   RPL31   RPS27A   RTKN   RTN4   SAP130   SCTR   SEMA4C   SEMA4F   SEPTIN10   SERTAD2   SFT2D3   SFTPB   SFXN5   SH2D6   SIX2   SIX3   SLC1A4   SLC20A1   SLC35F5   SLC3A1   SLC4A5   SLC5A7   SLC8A1   SLC9A2   SLC9A4   SMPD4   SMYD1   SMYD5   SNRNP200   SNRNP27   SNRPG   SOCS5   SOWAHC   SPOPL   SPR   SPRED2   SPTBN1   SRBD1   ST3GAL5   ST6GAL2   STAMBP   STARD7   STEAP3   STON1   STON1-GTF2A1L   STPG4   SUCLG1   SULT1C2   SULT1C3   SULT1C4   TACR1   TBC1D8   TCF7L1   TEKT4   TET3   TEX261   TEX37   TFCP2L1   TGFA   TGFBRAP1   TGOLN2   THADA   THNSL2   THSD7B   TIA1   TLX2   TMEM127   TMEM131   TMEM150A   TMEM163   TMEM17   TMEM177   TMEM182   TMEM185B   TMEM247   TMEM37   TMEM87B   TMSB10   TPRKB   TRABD2A   TRIM43   TRIM43B   TSGA10   TSN   TSPYL6   TTC31   TTC7A   TTL   TUBA3D   TUBA3E   TXNDC9   UBXN4   UGGT1   UGP2   UNC50   USP34   USP39   UXS1   VAMP5   VAMP8   VAX2   VPS54   VRK2   VWA3B   WBP1   WDPCP   WDR33   WDR54   WDR92   XPO1   ZAP70   ZC3H6   ZC3H8   ZEB2   ZFP36L2   ZNF2   ZNF514   ZNF638   ZNF806   ZRANB3  
Variant Type: inversion (SO:1000036)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37240,608,411 - 146,900,718CLINVAR
Cytogenetic Map22p22.1-q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13802350
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.