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Variant : CV164314 (GRCh38/hg38 19p13.3(chr19:259395-6795611)x3) Homo sapiens

Symbol: CV164314
Name: GRCh38/hg38 19p13.3(chr19:259395-6795611)x3
Condition: See cases [RCV000142627]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA7   ABHD17A   ACER1   ACSBG2   ADAMTSL5   ADAT3   ALKBH7   AMH   ANKRD24   AP3D1   APBA3   APC2   ARHGAP45   ARID3A   ARRDC5   ATCAY   ATP5F1D   ATP8B3   AZU1   BSG   BTBD2   C19orf25   C19orf71   C2CD4C   C3   CACTIN   CACTIN-AS1   CAPS   CATSPERD   CBARP   CD70   CDC34   CELF5   CFD   CHAF1A   CIRBP   CIRBP-AS1   CLPP   CNN2   CRB3   CREB3L3   CSNK1G2   CSNK1G2-AS1   DAPK3   DAZAP1   DENND1C   DIRAS1   DOHH   DOT1L   DPP9   DPP9-AS1   DUS3L   EBI3   EEF2   EFNA2   ELANE   FAM174C   FEM1A   FGF22   FSD1   FSTL3   FUT3   FUT5   FUT6   FZR1   GADD45B   GAMT   GIPC3   GNA11   GNA15   GNG7   GPR108   GPX4   GRIN3B   GTF2F1   GZMM   HCN2   HDGFL2   HMG20B   HSD11B1L   IZUMO4   JSRP1   KDM4B   KHSRP   KISS1R   KLF16   LINC01775   LINGO3   LMNB2   LONP1   LRG1   LSM7   MADCAM1   MAP2K2   MATK   MBD3   MED16   MEX3D   MFSD12   MICOS13   MIDN   MIER2   MIR1227   MIR1909   MIR3187   MIR3940   MIR4321   MIR4745   MIR4746   MIR4747   MIR637   MIR6789   MIR6790   MIR6791   MIR6885   MIR7-3   MIR7-3HG   MIR7108   MIR7850   MISP   MKNK2   MLLT1   MOB3A   MPND   MRPL54   MYDGF   NCLN   NDUFA11   NDUFS7   NFIC   NMRK2   NRTN   OAZ1   ODF3L2   ONECUT3   PALM   PCSK4   PEAK3   PIAS4   PIP5K1C   PLEKHJ1   PLIN3   PLIN4   PLIN5   PLK5   PLPP2   PLPPR3   POLR2E   POLRMT   PRR22   PRSS57   PRTN3   PSPN   PTBP1   PTPRS   PWWP3A   R3HDM4   RANBP3   RAX2   REEP6   REXO1   RFX2   RNF126   RNU6-2   RNU6-9   RPL36   RPS15   S1PR4   SAFB   SAFB2   SBNO2   SCAMP4   SEMA6B   SF3A2   SGTA   SH2D3A   SH3GL1   SHC2   SHD   SIRT6   SLC25A23   SLC25A41   SLC39A3   SMIM24   SNORD37   SPPL2B   STAP2   STK11   TBXA2R   TCF3   THEG   THOP1   TICAM1   TIMM13   TINCR   TJP3   TLE2   TLE5   TLE6   TMEM259   TMIGD2   TMPRSS9   TNFAIP8L1   TNFSF14   TNFSF9   TPGS1   TRF-GAA1-6   TRG-TCC1-1   TRIP10   TRN-GTT2-6   TRV-CAC3-1   TUBB4A   UBXN6   UHRF1   UQCR11   VAV1   VMAC   WDR18   YJU2   ZBTB7A   ZFR2   ZNF554   ZNF555   ZNF556   ZNF57   ZNF77   ZNRF4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_259395)_(6795611_?)dup
NC_000019.9:g.(?_259395)_(6795622_?)dup
NC_000019.8:g.(?_210395)_(6746622_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3819259,395 - 6,795,611CLINVAR
GRCh3719259,395 - 6,795,622CLINVAR
Build 3619210,395 - 6,746,622CLINVAR
Cytogenetic Map1919p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490225
Created: 2014-09-09
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.