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Variant : CV248065 (GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3) Homo sapiens

Symbol: CV248065
Name: GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3
Condition: See cases [RCV000240469]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: A4GALT   ACO2   ACR   ADM2   ADSL   ALG12   ANKRD54   APOBEC3A   APOBEC3B   APOBEC3C   APOBEC3D   APOBEC3F   APOBEC3G   APOBEC3H   APOL1   APOL2   APOL3   APOL4   APOL5   APOL6   ARFGAP3   ARHGAP8   ARSA   ATF4   ATP5MGL   ATXN10   BAIAP2L2   BIK   BRD1   C1QTNF6   C22orf23   CACNA1I   CACNG2   CARD10   CBX6   CBX7   CBY1   CCDC134   CDC42EP1   CDPF1   CELSR1   CENPM   CERK   CHADL   CHKB   CPT1B   CRELD2   CSDC2   CSF2RB   CSNK1E   CYB5R3   CYP2D6   CYTH4   DDX17   DENND6B   DESI1   DMC1   DNAJB7   DNAL4   EFCAB6   EIF3D   EIF3L   ELFN2   ENTHD1   EP300   FAM118A   FAM227A   FAM83F   FBLN1   FOXRED2   GALR3   GCAT   GGA1   GRAMD4   GRAP2   GTPBP1   GTSE1   H1-0   HDAC10   HMOX1   IFT27   IL17REL   IL2RB   JOSD1   KCNJ4   KCTD17   KDELR3   KIAA0930   KLHDC7B   L3MBTL2   L3MBTL2-AS1   LGALS1   LGALS2   LMF2   MAFF   MAPK11   MAPK12   MAPK8IP2   MB   MCAT   MCHR1   MCM5   MEI1   MFNG   MGAT3   MICALL1   MIEF1   MIOX   MIR33A   MIR659   MIRLET7A3   MIRLET7B   MLC1   MOV10L1   MPPED1   MPST   MRTFA   MYH9   NAGA   NCAPH2   NCF4   NDUFA6   NFAM1   NOL12   NPTXR   NUP50   ODF3B   PACSIN2   PANX2   PARVB   PARVG   PDGFB   PDXP   PHETA2   PHF21B   PHF5A   PICK1   PIM3   PKDREJ   PLA2G6   PLXNB2   PMM1   PNPLA3   PNPLA5   POLDIP3   POLR2F   POLR3H   PPARA   PPP6R2   PRR34   PRR5   PRR5-ARHGAP8   PVALB   RABL2B   RAC2   RANGAP1   RASD2   RBFOX2   RBX1   RIBC2   RPL3   RPS19BP1   RRP7A   RTL6   SAMM50   SBF1   SCO2   SCUBE1   SELENOO   SEPTIN3   SERHL2   SGSM3   SH3BP1   SHANK3   SHISA8   SHISAL1   SLC16A8   SLC25A17   SMC1B   SMDT1   SNORD139   SNORD43   SNORD83A   SNORD83B   SNU13   SOX10   SREBF2   SSTR3   ST13   SULT4A1   SUN2   SYCE3   SYNGR1   TAB1   TAFA5   TBC1D22A   TCF20   TEF   TEX33   TMEM184B   TMPRSS6   TNFRSF13C   TNRC6B   TOB2   TOM1   TOMM22   TRABD   TRIOBP   TRMU   TSPO   TST   TTC38   TTLL1   TTLL12   TTLL8   TUBGCP6   TXN2   TYMP   UPK3A   WBP2NL   WNT7B   XPNPEP3   XRCC6   ZBED4   ZC3H7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372235,728,929 - 51,220,961CLINVAR
Cytogenetic Map2222q12.3-13.33CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541861
Created: 2016-10-11
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.