Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV672617 (GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3) Homo sapiens

Symbol: CV672617
Name: GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3
Condition: not provided [RCV000845733]
Clinical Significance: pathogenic
Last Evaluated: 10/13/2017
Review Status: no assertion criteria provided
Related Genes: ACP7   ACTN4   AKT2   ALKBH6   ANKRD27   AP2S1   APLP1   APOC1   APOC2   APOC4   APOE   ARHGAP33   ARHGAP35   ARHGEF1   ATP1A3   ATP4A   AXL   B3GNT8   B9D2   BBC3   BCAM   BCKDHA   BCL3   BICRA   BLOC1S3   BLVRB   BSPH1   C19orf12   C19orf33   C19orf47   C19orf54   C5AR1   C5AR2   CA11   CABP5   CADM4   CALM3   CAPN12   CAPNS1   CARD8   CATSPERG   CBLC   CCDC114   CCDC61   CCDC8   CCDC9   CCDC97   CCNE1   CCNP   CD177   CD22   CD79A   CEACAM1   CEACAM16   CEACAM19   CEACAM20   CEACAM21   CEACAM3   CEACAM4   CEACAM5   CEACAM6   CEACAM7   CEACAM8   CEBPA   CEBPG   CEP89   CHST8   CIC   CKM   CLASRP   CLC   CLIP3   CLPTM1   CNFN   COQ8B   COX6B1   COX7A1   CRX   CXCL17   CYP2A13   CYP2A6   CYP2A7   CYP2B6   CYP2F1   CYP2S1   CYTH2   DACT3   DBP   DEDD2   DHX34   DLL3   DMAC2   DMKN   DMPK   DMRTC2   DMWD   DPF1   DPY19L3   DYRK1B   ECH1   EGLN2   EHD2   EID2   EID2B   EIF3K   ELSPBP1   EML2   EMP3   ERCC1   ERCC2   ERF   ERICH4   ETHE1   ETV2   EXOC3L2   EXOSC5   FAAP24   FAM187B   FAM83E   FAM98C   FBL   FBXO17   FBXO27   FBXO46   FCGBP   FFAR1   FFAR2   FFAR3   FKRP   FOSB   FOXA3   FUT2   FXYD1   FXYD3   FXYD5   FXYD7   GAPDHS   GARRE1   GEMIN7   GGN   GIPR   GMFG   GNG8   GPATCH1   GPI   GPR4   GPR42   GRAMD1A   GRIK5   GRIN2D   GRWD1   GSK3A   HAMP   HAUS5   HCST   HIF3A   HIPK4   HNRNPL   HNRNPUL1   HPN   HSPB6   IFNL1   IFNL2   IFNL3   IGFL1   IGFL2   IGFL3   IGFL4   IGFLR1   IGSF23   INAFM1   IRF2BP1   IRGC   IRGQ   ITPKC   KCNJ14   KCNK6   KCNN4   KCTD15   KDELR1   KIRREL2   KLC3   KMT2B   KPTN   KRTDAP   LEUTX   LGALS13   LGALS14   LGALS16   LGALS4   LGALS7   LGALS7B   LGI4   LIG1   LIN37   LIPE   LMTK3   LRFN1   LRFN3   LRP3   LSM14A   LSR   LTBP4   LYPD3   LYPD4   LYPD5   MAG   MAP3K10   MAP4K1   MARK4   MED29   MEGF8   MEIS3   MIA   MRPS12   MYPOP   NANOS2   NAPA   NCCRP1   NECTIN2   NFKBIB   NFKBID   NKPD1   NOP53   NOVA2   NPAS1   NPHS1   NTN5   NUDT19   NUMBL   OPA3   OVOL3   PAF1   PAFAH1B3   PAK4   PDCD2L   PDCD5   PEPD   PGLYRP1   PHLDB3   PINLYP   PLA2G4C   PLAUR   PLD3   PLEKHF1   PLEKHG2   PNMA8A   PNMA8B   POLR1G   POLR2I   POP4   POU2F2   PPM1N   PPP1R13L   PPP1R14A   PPP1R37   PPP5C   PPP5D1   PRKD2   PRODH2   PROSER3   PRR19   PRX   PSENEN   PSG1   PSG11   PSG2   PSG3   PSG4   PSG5   PSG6   PSG7   PSG8   PSG9   PSMC4   PSMD8   PTGIR   PVR   QPCTL   RAB4B   RABAC1   RASGRP4   RBM42   RELB   RGS9BP   RHPN2   RINL   RPL18   RPS16   RPS19   RSPH6A   RTN2   RYR1   SAE1   SAMD4B   SARS2   SBSN   SCGB2B2   SCN1B   SDHAF1   SELENOV   SELENOW   SERTAD1   SERTAD3   SHKBP1   SIPA1L3   SIRT2   SIX5   SLC1A5   SLC7A10   SLC7A9   SLC8A2   SMG9   SNRPA   SNRPD2   SPACA4   SPHK2   SPINT2   SPRED3   SPTBN4   SRRM5   STRN4   SULT2A1   SULT2B1   SUPT5H   SYCN   SYMPK   SYNE4   SYNGR4   TBCB   TDRD12   TEX101   TGFB1   THAP8   TIMM50   TMEM143   TMEM145   TMEM147   TMEM160   TMEM91   TOMM40   TPRX1   TRAPPC6A   TRU-TCA1-1   TSHZ3   TTC9B   TYROBP   U2AF1L4   UBA2   UPK1A   UQCRFS1   URI1   USF2   VASP   VSTM2B   WDR62   WDR87   WDR88   WTIP   XRCC1   YIF1B   ZBTB32   ZC3H4   ZFP14   ZFP30   ZFP36   ZFP82   ZNF112   ZNF114   ZNF146   ZNF155   ZNF180   ZNF181   ZNF221   ZNF222   ZNF223   ZNF224   ZNF225   ZNF226   ZNF227   ZNF229   ZNF230   ZNF233   ZNF234   ZNF235   ZNF260   ZNF283   ZNF284   ZNF285   ZNF296   ZNF30   ZNF302   ZNF345   ZNF382   ZNF383   ZNF404   ZNF420   ZNF428   ZNF45   ZNF461   ZNF507   ZNF526   ZNF527   ZNF529   ZNF536   ZNF540   ZNF541   ZNF546   ZNF565   ZNF566   ZNF567   ZNF568   ZNF569   ZNF570   ZNF571   ZNF573   ZNF574   ZNF575   ZNF576   ZNF585A   ZNF585B   ZNF599   ZNF607   ZNF780A   ZNF780B   ZNF781   ZNF790   ZNF792   ZNF793   ZNF829   ZNF850   ZNF875   ZSWIM9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371928,271,106 - 49,213,832CLINVAR
Cytogenetic Map1919q11-13.33CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14977594
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.