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Variant : CV804292 (GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3) Homo sapiens

Symbol: CV804292
Name: GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3
Condition: not provided [RCV001007050]
Clinical Significance: pathogenic
Last Evaluated: 07/06/2018
Review Status: no assertion criteria provided
Related Genes: ACP4   ADM5   AKT1S1   ALDH16A1   AP2A1   AP2S1   APOC1   APOC2   APOC4   APOE   ARHGAP35   ASPDH   ATF5   BAX   BBC3   BCAM   BCAT2   BCL2L12   BCL3   BICRA   BLOC1S3   BSPH1   C19orf48   C19orf73   C19orf81   C5AR1   C5AR2   CA11   CABP5   CALM3   CARD8   CBLC   CCDC114   CCDC61   CCDC8   CCDC9   CD33   CD37   CEACAM16   CEACAM18   CEACAM19   CEACAM20   CGB1   CGB2   CGB3   CGB5   CGB7   CGB8   CKM   CLASRP   CLDND2   CLEC11A   CLPTM1   CPT1C   CRX   CTU1   CYTH2   DACT3   DBP   DHDH   DHX34   DKKL1   DMPK   DMWD   EHD2   ELSPBP1   EMC10   EML2   EMP3   ERCC1   ERCC2   ERVV-1   ERVV-2   ETFB   EXOC3L2   FAM71E1   FAM83E   FBXO46   FCGRT   FGF21   FKRP   FLT3LG   FOSB   FOXA3   FPR1   FPR2   FPR3   FTL   FUT1   FUT2   FUZ   GEMIN7   GIPR   GNG8   GPR32   GPR4   GRIN2D   GRWD1   GYS1   HAS1   HIF3A   HRC   HSD17B14   IGFL1   IGFL2   IGFL3   IGFL4   IGLON5   IGSF23   IL4I1   INAFM1   IRF2BP1   IRF3   IZUMO1   IZUMO2   JOSD2   KASH5   KCNA7   KCNC3   KCNJ14   KDELR1   KLC3   KLK1   KLK10   KLK11   KLK12   KLK13   KLK14   KLK15   KLK2   KLK3   KLK4   KLK5   KLK6   KLK7   KLK8   KLK9   KPTN   LHB   LIG1   LIM2   LIN7B   LMTK3   LRRC4B   MAMSTR   MARK4   MED25   MEIS3   MIR125A   MIR150   MIR99B   MIRLET7E   MYBPC2   MYH14   MYPOP   NANOS2   NAPA   NAPSA   NECTIN2   NKG7   NKPD1   NOP53   NOSIP   NOVA2   NPAS1   NR1H2   NTF4   NTN5   NUCB1   NUP62   OPA3   PGLYRP1   PIH1D1   PLA2G4C   PLEKHA4   PNKP   PNMA8A   PNMA8B   POLD1   POLR1G   PPFIA3   PPM1N   PPP1R13L   PPP1R15A   PPP1R37   PPP2R1A   PPP5C   PPP5D1   PRKD2   PRMT1   PRR12   PRRG2   PTGIR   PTH2   PTOV1   PTOV1-AS2   PVR   QPCTL   RASIP1   RCN3   RELB   RPL13A   RPL18   RPS11   RRAS   RSPH6A   RTN2   RUVBL2   SAE1   SCAF1   SELENOW   SHANK1   SIGLEC10   SIGLEC11   SIGLEC12   SIGLEC14   SIGLEC5   SIGLEC6   SIGLEC7   SIGLEC8   SIGLEC9   SIGLECL1   SIX5   SLC17A7   SLC1A5   SLC6A16   SLC8A2   SNRNP70   SNRPD2   SPACA4   SPHK2   SPIB   STRN4   SULT2A1   SULT2B1   SYMPK   SYNGR4   SYT3   TBC1D17   TEAD2   TMEM143   TMEM160   TOMM40   TPRX1   TRAPPC6A   TRPM4   TRU-TCA1-1   TSKS   TULP2   VASP   VRK3   VSIG10L   ZC3H4   ZNF112   ZNF114   ZNF160   ZNF175   ZNF180   ZNF227   ZNF229   ZNF233   ZNF235   ZNF28   ZNF285   ZNF296   ZNF320   ZNF350   ZNF415   ZNF432   ZNF468   ZNF473   ZNF480   ZNF528   ZNF534   ZNF541   ZNF577   ZNF578   ZNF600   ZNF610   ZNF611   ZNF613   ZNF614   ZNF615   ZNF616   ZNF649   ZNF701   ZNF766   ZNF808   ZNF816   ZNF816-ZNF321P   ZNF83   ZNF836   ZNF841   ZNF880   ZNF888   ZSWIM9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371944,738,088 - 53,621,561CLINVAR
Cytogenetic Map1919q13.31-13.42CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 25316564
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-07-07
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.