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Variant : CV74267 (GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1) Homo sapiens

Symbol: CV74267
Name: GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1
Condition: Mastocytosis [RCV000053524]|See cases [RCV000053524]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABLIM3   ACSL6   ACSL6-AS1   ADAMTS19   ADAMTS19-AS1   ADRB2   AFAP1L1   AFF4   ALDH7A1   ANKHD1   ANKHD1-EIF4EBP3   ANXA6   AP3S1   APBB3   APC   ARAP3   ARHGAP26   ARHGAP26-AS1   ARHGAP26-IT1   ARHGEF37   ARL14EPL   ARSI   ATG12   ATOX1   BRD8   C5orf15   C5orf24   C5orf46   C5orf63   C5orf66   C5orf66-AS1   C5orf66-AS2   CAMK2A   CAMK4   CAMLG   CARMN   CATSPER3   CCDC112   CCDC192   CCDC69   CCNI2   CD14   CD74   CDC23   CDC25C   CDC42SE2   CDKL3   CDKN2AIPNL   CDO1   CDX1   CEP120   CHSY3   CLMAT3   CNOT8   COMMD10   CSF1R   CSF2   CSNK1A1   CSNK1G3   CTNNA1   CTXN3   CXCL14   CXXC5   CXXC5-AS1   CYSTM1   DCANP1   DCP2   DCTN4   DDX46   DELE1   DIAPH1   DIAPH1-AS1   DMXL1   DNAJC18   DND1   DPYSL3   DTWD2   ECSCR   EFNA5   EGR1   EIF4EBP3   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   ETF1   FAM114A2   FAM13B   FAM170A   FAM53C   FAT2   FAXDC2   FBN2   FBXL17   FBXO38   FCHSD1   FEM1C   FER   FGF1   FNIP1   FSTL4   FTMT   G3BP1   GALNT10   GDF9   GEMIN5   GFRA3   GLRA1   GM2A   GNPDA1   GPR151   GPX3   GRAMD2B   GRIA1   GRPEL2   GRPEL2-AS1   GRXCR2   HAND1   HARS1   HARS2   HBEGF   HDAC3   HINT1   HMGXB3   HMHB1   HNRNPA0   HSD17B4   HSPA4   HSPA9   HTR4   IGIP   IK   IL13   IL17B   IL3   IL4   IL5   IL9   IRF1   IRF1-AS1   IRGM   ISOC1   JADE2   JAKMIP2   JAKMIP2-AS1   KCNN2   KCTD16   KDM3B   KIF20A   KIF3A   KIF4B   KLHL3   LARP1   LARS1   LEAP2   LECT2   LINC00992   LINC01023   LINC01170   LINC01184   LINC01470   LINC01843   LINC01844   LINC01848   LINC01861   LINC01933   LINC01950   LINC01957   LINC02039   LINC02147   LINC02148   LINC02200   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINC02863   LINCADL   LMNB1   LMNB1-DT   LOX   LRRTM2   LVRN   LYRM7   MACROH2A1   MALINC1   MAN2A1   MARCHF3   MARCOL   MATR3   MCC   MEGF10   MEIKIN   MFAP3   MINAR2   MIR12130   MIR1244-2   MIR1289-2   MIR1294   MIR1303   MIR143   MIR145   MIR3141   MIR3655   MIR3661   MIR378A   MIR378H   MIR3936   MIR3936HG   MIR4460   MIR4633   MIR5197   MIR548F3   MIR5692C1   MIR5706   MIR584   MIR6499   MIR6830   MIR6831   MIR874   MRPL22   MYOT   MYOZ3   MZB1   NDFIP1   NDST1   NDST1-AS1   NDUFA2   NEUROG1   NME5   NMUR2   NR3C1   NREP   NREP-AS1   NRG2   P4HA2   P4HA2-AS1   PAIP2   PCBD2   PCDH1   PCDH12   PCDHA1   PCDHA10   PCDHA11   PCDHA12   PCDHA13   PCDHA2   PCDHA3   PCDHA4   PCDHA5   PCDHA6   PCDHA7   PCDHA8   PCDHA9   PCDHA@   PCDHAC1   PCDHAC2   PCDHACT   PCDHB1   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCYOX1L   PDE6A   PDGFRB   PDLIM4   PFDN1   PGGT1B   PHAX   PITX1   PJA2   PKD2L2   PLAC8L1   POU4F3   PPARGC1B   PPIC   PPP2CA   PPP2R2B   PPP2R2B-IT1   PRDM6   PRELID2   PROB1   PRR16   PRRC1   PSD2   PSD2-AS1   PURA   RAD50   RAPGEF6   RBM22   RBM27   REEP2   REEP5   RELL2   RNF14   RPS14   SAP30L   SAP30L-AS1   SAR1B   SCGB3A2   SEC24A   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SEPTIN8   SGCD   SH3RF2   SH3TC2   SH3TC2-DT   SHROOM1   SIL1   SKP1   SLC12A2   SLC22A4   SLC22A5   SLC23A1   SLC25A2   SLC25A46   SLC25A48   SLC25A48-AS1   SLC26A2   SLC27A6   SLC35A4   SLC36A1   SLC36A2   SLC36A3   SLC4A9   SLC6A7   SMAD5   SMAD5-AS1   SMIM3   SMIM32   SMIM33   SNCAIP   SNHG4   SNORA13   SNORA74A   SNORA74D   SNORD63   SNORD63B   SNX2   SNX24   SOWAHA   SPARC   SPATA24   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPOCK1   SPRY4   SPRY4-AS1   SPRY4-IT1   SRA1   SRFBP1   SRP19   STARD4   STARD4-AS1   STING1   STK32A   STK32A-AS1   SYNPO   TAF7   TCERG1   TCF7   TCOF1   TEX43   TGFBI   TH2LCRR   TICAM2   TIFAB   TIGD6   TMCO6   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TNIP1   TRIM36   TRPC7   TRPC7-AS2   TSLP   TSSK1B   TXNDC15   UBE2B   UBE2D2   UQCRQ   VDAC1   VTRNA1-1   VTRNA1-2   VTRNA1-3   VTRNA2-1   WDR36   WDR55   WNT8A   WSPAR   YIPF5   YTHDC2   ZCCHC10   ZMAT2   ZNF300   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_106619588)_(156124387_?)del
NC_000005.9:g.(?_105955289)_(155551397_?)del
NC_000005.8:g.(?_105983188)_(155483975_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385106,619,588 - 156,124,387CLINVAR
GRCh375105,955,289 - 155,551,397CLINVAR
Build 365105,983,188 - 155,483,975CLINVAR
Cytogenetic Map55q21.3-33.2CLINVAR
Age Of Onset: variable



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620453
Created: 2014-05-13
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.