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Variant : CV436093 (GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1) Homo sapiens

Symbol: CV436093
Name: GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1
Condition: See cases [RCV000511978]
Clinical Significance: pathogenic
Last Evaluated: 02/01/2016
Review Status: no assertion criteria provided
Related Genes: ABLIM3   ACOT12   ACSL6   ACTBL2   ADAM19   ADAMTS12   ADAMTS19   ADAMTS6   ADGRV1   ADRA1B   ADRB2   AFAP1L1   AFF4   AGGF1   AGXT2   ALDH7A1   AMACR   ANKDD1B   ANKHD1   ANKHD1-EIF4EBP3   ANKRA2   ANKRD31   ANKRD34B   ANKRD55   ANXA2R   ANXA6   AP3B1   AP3S1   APBB3   APC   ARAP3   ARHGAP26   ARHGEF28   ARHGEF37   ARL10   ARL14EPL   ARL15   ARRDC3   ARSB   ARSI   ARSK   ATG10   ATG12   ATOX1   ATP10B   ATP6AP1L   ATP6V0E1   BDP1   BHMT   BHMT2   BNIP1   BOD1   BRD8   BRIX1   BTF3   C1QTNF2   C1QTNF3   C5orf15   C5orf17   C5orf22   C5orf24   C5orf34   C5orf46   C5orf47   C5orf51   C5orf52   C5orf58   C5orf63   C5orf64   C6   C7   C9   CAMK2A   CAMK4   CAMLG   CAPSL   CARD6   CARTPT   CAST   CATSPER3   CCDC112   CCDC125   CCDC152   CCDC69   CCL28   CCNB1   CCNG1   CCNH   CCNI2   CCNJL   CCNO   CD14   CD180   CD74   CDC20B   CDC23   CDC25C   CDC42SE2   CDH10   CDH12   CDH18   CDH6   CDH9   CDHR2   CDK7   CDKL3   CDKN2AIPNL   CDO1   CDX1   CENPH   CENPK   CEP120   CERT1   CETN3   CHD1   CHSY3   CKMT2   CLINT1   CLTB   CMYA5   CNOT8   COMMD10   COX7C   CPEB4   CPLANE1   CPLX2   CREBRF   CRHBP   CSF1R   CSF2   CSNK1A1   CSNK1G3   CTNNA1   CTXN3   CWC27   CXCL14   CXXC5   CYFIP2   CYSTM1   DAB2   DCANP1   DCP2   DCTN4   DDX4   DDX46   DELE1   DEPDC1B   DHFR   DHX29   DIAPH1   DIMT1   DMGDH   DMXL1   DNAJC18   DNAJC21   DND1   DOCK2   DPYSL3   DRD1   DROSHA   DTWD2   DUSP1   EBF1   ECSCR   EDIL3   EFCAB9   EFNA5   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   EGR1   EIF4E1B   EIF4EBP3   ELL2   ELOVL7   EMB   ENC1   EPB41L4A   ERAP1   ERAP2   ERBIN   ERCC8   ERGIC1   ESM1   ETF1   F2R   F2RL1   F2RL2   FABP6   FAF2   FAM114A2   FAM13B   FAM151B   FAM153B   FAM169A   FAM170A   FAM172A   FAM174A   FAM53C   FAM71B   FAM81B   FAT2   FAXDC2   FBN2   FBXL17   FBXO38   FBXO4   FBXW11   FCHO2   FCHSD1   FEM1C   FER   FGF1   FGF10   FGF18   FGFR4   FNDC9   FNIP1   FOXD1   FOXI1   FST   FSTL4   FTMT   FYB1   G3BP1   GABRA1   GABRA6   GABRB2   GABRG2   GABRP   GALNT10   GAPT   GCNT4   GDF9   GDNF   GDNF-AS1   GEMIN5   GFM2   GFRA3   GHR   GIN1   GLRA1   GLRX   GM2A   GNPDA1   GOLPH3   GPBP1   GPR150   GPR151   GPRIN1   GPX3   GPX8   GRAMD2B   GRIA1   GRPEL2   GRXCR2   GTF2H2   GTF2H2C   GZMA   GZMK   HAND1   HAPLN1   HARS1   HARS2   HAVCR1   HAVCR2   HBEGF   HCN1   HDAC3   HEXB   HIGD2A   HINT1   HK3   HMGCR   HMGCS1   HMGXB3   HMHB1   HMMR   HNRNPA0   HOMER1   HRH2   HSD17B4   HSPA4   HSPA9   HSPB3   HTR1A   HTR4   IGIP   IK   IL12B   IL13   IL17B   IL3   IL31RA   IL4   IL5   IL6ST   IL7R   IL9   INSYN2B   IPO11   IQGAP2   IRF1   IRGM   ISL1   ISOC1   ITGA1   ITGA2   ITK   JADE2   JAKMIP2   JMY   KCNIP1   KCNMB1   KCNN2   KCTD16   KDM3B   KIAA0825   KIAA1191   KIF20A   KIF2A   KIF3A   KIF4B   KLHL3   LARP1   LARS1   LCP2   LEAP2   LECT2   LHFPL2   LIFR   LIX1   LMBRD2   LMNB1   LNPEP   LOC100288254   LOX   LRRC70   LRRTM2   LSM11   LUCAT1   LVRN   LYRM7   LYSMD3   MACIR   MACROH2A1   MAN2A1   MAP1B   MAP3K1   MARCHF3   MARVELD2   MAST4   MAT2B   MATR3   MBLAC2   MCC   MCCC2   MCIDAS   MCTP1   MED7   MEF2C   MEGF10   MFAP3   MIER3   MINAR2   MIR103A1   MIR143   MIR145   MIR146A   MIR378A   MIR449A   MIR449B   MIR9-2   MOCS2   MROH2B   MRPL22   MRPS27   MRPS30   MRPS36   MSH3   MSX2   MTMR12   MTREX   MTRNR2L2   MTX3   MYOT   MYOZ3   MZB1   NADK2   NAIP   NCRUPAR   NDFIP1   NDST1   NDUFA2   NDUFAF2   NDUFS4   NEURL1B   NEUROG1   NIPAL4   NIPBL   NKX2-5   NLN   NME5   NMUR2   NNT   NOP16   NPM1   NPR3   NR2F1   NR3C1   NREP   NRG2   NSA2   NSD1   NUDCD2   NUDT12   NUP155   OCLN   OSMR   OTP   OXCT1   P4HA2   PAIP1   PAIP2   PAM   PANK3   PARP8   PART1   PCBD2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCSK1   PCYOX1L   PDE4D   PDE6A   PDE8B   PDGFRB   PDLIM4   PDZD2   PELO   PFDN1   PGGT1B   PHAX   PIK3R1   PITX1   PJA2   PKD2L2   PLAC8L1   PLCXD3   PLK2   PLPP1   POC5   POLK   POLR3G   POU4F3   POU5F2   PPARGC1B   PPIC   PPIP5K2   PPP2CA   PPP2R2B   PPWD1   PRDM6   PRDM9   PRELID2   PRKAA1   PRLR   PROB1   PRR16   PRRC1   PSD2   PTCD2   PTGER4   PTTG1   PURA   PWWP2A   RAB3C   RAD1   RAD17   RAD50   RAI14   RANBP17   RANBP3L   RAPGEF6   RARS1   RASA1   RASGRF2   RBM22   RBM27   REEP2   REEP5   RELL2   RFESD   RGMB   RGS7BP   RHOBTB3   RICTOR   RIOK2   RNF14   RNF145   RNF180   RNF44   RPL26L1   RPL37   RPS14   RPS23   RXFP3   S100Z   SAP30L   SAR1B   SCAMP1   SCARNA18   SCGB3A2   SEC24A   SELENOP   SEMA6A   SEPTIN8   SERF1A   SERF1B   SERINC5   SETD9   SFXN1   SGCD   SGTB   SH3PXD2B   SH3RF2   SH3TC2   SHISAL2B   SHROOM1   SIL1   SIMC1   SKP1   SKP2   SLC12A2   SLC1A3   SLC22A4   SLC22A5   SLC23A1   SLC25A2   SLC25A46   SLC25A48   SLC26A2   SLC27A6   SLC30A5   SLC35A4   SLC36A1   SLC36A2   SLC36A3   SLC38A9   SLC45A2   SLC4A9   SLC6A7   SLCO4C1   SLCO6A1   SLF1   SLIT3   SLU7   SMAD5   SMIM15   SMIM23   SMIM3   SMN1   SMN2   SNCAIP   SNCB   SNHG4   SNORA74B   SNX18   SNX2   SNX24   SOWAHA   SOX30   SPARC   SPATA24   SPATA9   SPDL1   SPEF2   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPOCK1   SPRY4   SPZ1   SRA1   SREK1   SREK1IP1   SRFBP1   SRP19   SSBP2   ST8SIA4   STARD4   STC2   STING1   STK10   STK32A   SUB1   SV2C   SYNPO   TAF7   TAF9   TARS1   TBCA   TCERG1   TCF7   TCOF1   TENM2   TENT2   TEX43   TGFBI   THBS4   THG1L   THOC3   TICAM2   TIFAB   TIGD6   TIMD4   TLX3   TMCO6   TMED7   TMED7-TICAM2   TMEM161B   TMEM167A   TMEM171   TMEM174   TMEM232   TMEM267   TNFAIP8   TNIP1   TNPO1   TRAPPC13   TRIM23   TRIM36   TRPC7   TSLP   TSPAN17   TSSK1B   TTC1   TTC23L   TTC33   TTC37   TXNDC15   UBE2B   UBE2D2   UBLCP1   UBTD2   UGT3A1   UGT3A2   UIMC1   UNC5A   UQCRQ   UTP15   VCAN   VDAC1   VTRNA1-1   VTRNA1-2   VTRNA1-3   VTRNA2-1   WDR36   WDR41   WDR55   WDR70   WNT8A   WWC1   XRCC4   YIPF5   YTHDC2   ZBED3   ZBED8   ZCCHC10   ZCCHC9   ZFR   ZFYVE16   ZMAT2   ZNF131   ZNF300   ZNF346   ZNF366   ZNF474   ZNF608   ZSWIM6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37517,628,741 - 176,575,720CLINVAR
Cytogenetic Map55p15.1-q35.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444947
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.