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Variant : CV73711 (GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3) Homo sapiens

Symbol: CV73711
Name: GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052914]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052914]|See cases [RCV000052914]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A1BG   A1BG-AS1   ACP4   ADM5   AKT1S1   ALDH16A1   AP2A1   ASPDH   ATF5   AURKC   BAX   BCAT2   BCL2L12   BRSK1   BSPH1   C19orf18   C19orf48   C19orf73   C19orf81   C19orf84   CA11   CABP5   CACNG6   CACNG7   CACNG8   CARD8   CARD8-AS1   CCDC106   CCDC114   CCDC155   CD33   CD37   CDC42EP5   CEACAM18   CGB1   CGB2   CGB3   CGB5   CGB7   CGB8   CLDND2   CLEC11A   CNOT3   COX6B2   CPT1C   CTU1   CYTH2   DBP   DHDH   DKKL1   DNAAF3   DPRX   DUXA   EDDM13   ELSPBP1   EMC10   EMP3   EPN1   EPS8L1   ERVK3-1   ERVV-1   ERVV-2   ETFB   FAM71E1   FAM71E2   FAM83E   FCAR   FCGRT   FGF21   FIZ1   FLT3LG   FPR1   FPR2   FPR3   FTL   FUT1   FUT2   FUZ   GALP   GFY   GP6   GPR32   GRIN2D   GRWD1   GYS1   HAS1   HRC   HSD17B14   HSPBP1   IGLON5   IL11   IL4I1   IRF3   ISOC2   IZUMO1   IZUMO2   JOSD2   KCNA7   KCNC3   KCNJ14   KDELR1   KIR2DL1   KIR2DL3   KIR2DL4   KIR2DS4   KIR3DL1   KIR3DL2   KIR3DL3   KLK1   KLK10   KLK11   KLK12   KLK13   KLK14   KLK15   KLK2   KLK3   KLK4   KLK5   KLK6   KLK7   KLK8   KLK9   KMT5C   LAIR1   LAIR2   LENG1   LENG8   LENG8-AS1   LENG9   LHB   LIG1   LILRA1   LILRA2   LILRA4   LILRA5   LILRA6   LILRB1   LILRB2   LILRB3   LILRB4   LILRB5   LIM2   LIN7B   LINC01530   LINC01864   LINC01869   LINC01872   LINC02560   LMTK3   LOC400710   LRRC4B   MAMSTR   MBOAT7   MED25   MIMT1   MIR10394   MIR125A   MIR1283-1   MIR1283-2   MIR1323   MIR150   MIR371A   MIR371B   MIR372   MIR373   MIR4324   MIR4749   MIR4750   MIR4751   MIR4752   MIR4754   MIR498   MIR5088   MIR512-1   MIR512-2   MIR515-1   MIR515-2   MIR516A1   MIR516A2   MIR516B1   MIR516B2   MIR517A   MIR517B   MIR517C   MIR518A1   MIR518A2   MIR518B   MIR518C   MIR518D   MIR518E   MIR518F   MIR519A1   MIR519A2   MIR519B   MIR519C   MIR519D   MIR519E   MIR520A   MIR520B   MIR520C   MIR520D   MIR520E   MIR520F   MIR520G   MIR520H   MIR521-1   MIR521-2   MIR522   MIR523   MIR524   MIR525   MIR526A1   MIR526A2   MIR526B   MIR527   MIR643   MIR6798   MIR6799   MIR6800   MIR6801   MIR6802   MIR6803   MIR6804   MIR6805   MIR6806   MIR7975   MIR8061   MIR8074   MIR935   MIR99B   MIRLET7E   MYADM   MYADM-AS1   MYBPC2   MYH14   NAPSA   NAT14   NCR1   NDUFA3   NKG7   NLRP11   NLRP12   NLRP13   NLRP2   NLRP4   NLRP5   NLRP7   NLRP8   NLRP9   NOSIP   NR1H2   NTF4   NTN5   NUCB1   NUCB1-AS1   NUP62   OSCAR   PEG3   PEG3-AS1   PIH1D1   PLA2G4C   PLA2G4C-AS1   PLEKHA4   PNKP   POLD1   PPFIA3   PPP1R12C   PPP1R15A   PPP2R1A   PPP6R1   PRKCG   PRMT1   PRPF31   PRR12   PRRG2   PTH2   PTOV1   PTOV1-AS1   PTOV1-AS2   PTPRH   RASIP1   RCN3   RDH13   RFPL4A   RFPL4AL1   RNF225   RPL13A   RPL18   RPL28   RPS11   RPS5   RPS9   RRAS   RUVBL2   SBK2   SBK3   SCAF1   SHANK1   SHISA7   SIGLEC10   SIGLEC11   SIGLEC12   SIGLEC14   SIGLEC16   SIGLEC5   SIGLEC6   SIGLEC7   SIGLEC8   SIGLEC9   SIGLECL1   SLC17A7   SLC27A5   SLC6A16   SMIM17   SNAR-A1   SNAR-A10   SNAR-A11   SNAR-A13   SNAR-A14   SNAR-A2   SNAR-A3   SNAR-A4   SNAR-A5   SNAR-A6   SNAR-A7   SNAR-A8   SNAR-A9   SNAR-B1   SNAR-B2   SNAR-C1   SNAR-C2   SNAR-C3   SNAR-C4   SNAR-C5   SNAR-D   SNAR-F   SNAR-G1   SNAR-G2   SNORD157   SNORD32A   SNORD33   SNORD34   SNORD35A   SNORD35B   SNORD88A   SNORD88B   SNORD88C   SNRNP70   SPACA4   SPACA6   SPACA6P-AS   SPHK2   SPIB   SSC5D   SULT2B1   SYNGR4   SYT3   SYT5   TARM1   TBC1D17   TEAD2   TFPT   TMC4   TMEM143   TMEM150B   TMEM190   TMEM238   TMEM86B   TNNI3   TNNT1   TRAPPC2B   TRPM4   TSEN34   TSKS   TTYH1   TULP2   U2AF2   UBE2S   USP29   VN1R1   VN1R2   VN1R4   VRK3   VSIG10L   VSTM1   ZBTB45   ZFP28   ZIK1   ZIM2   ZIM2-AS1   ZIM3   ZNF114   ZNF132   ZNF134   ZNF135   ZNF154   ZNF160   ZNF17   ZNF175   ZNF211   ZNF256   ZNF264   ZNF274   ZNF28   ZNF304   ZNF320   ZNF324   ZNF324B   ZNF329   ZNF331   ZNF347   ZNF350   ZNF350-AS1   ZNF415   ZNF416   ZNF417   ZNF418   ZNF419   ZNF432   ZNF444   ZNF446   ZNF460   ZNF460-AS1   ZNF468   ZNF470   ZNF471   ZNF473   ZNF480   ZNF497   ZNF524   ZNF525   ZNF528   ZNF528-AS1   ZNF530   ZNF534   ZNF543   ZNF544   ZNF547   ZNF548   ZNF549   ZNF550   ZNF551   ZNF552   ZNF577   ZNF578   ZNF579   ZNF580   ZNF581   ZNF582   ZNF582-AS1   ZNF583   ZNF584   ZNF586   ZNF587   ZNF587B   ZNF600   ZNF606   ZNF610   ZNF611   ZNF613   ZNF614   ZNF615   ZNF616   ZNF628   ZNF649   ZNF649-AS1   ZNF665   ZNF667   ZNF667-AS1   ZNF671   ZNF677   ZNF701   ZNF71   ZNF749   ZNF761   ZNF765   ZNF766   ZNF772   ZNF773   ZNF776   ZNF784   ZNF787   ZNF8   ZNF805   ZNF808   ZNF813   ZNF814   ZNF816   ZNF816-ZNF321P   ZNF83   ZNF835   ZNF836   ZNF837   ZNF841   ZNF845   ZNF865   ZNF880   ZNF888   ZSCAN1   ZSCAN18   ZSCAN22   ZSCAN4   ZSCAN5A   ZSCAN5B   ZSCAN5C   ZSWIM9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_47908540)_(58539965_?)dup
NC_000019.9:g.(?_48411797)_(59051332_?)dup
NC_000019.8:g.(?_53103609)_(63743144_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381947,908,540 - 58,539,965CLINVAR
GRCh371948,411,797 - 59,051,332CLINVAR
Build 361953,103,609 - 63,743,144CLINVAR
Cytogenetic Map1919q13.33-13.43CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619884
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.