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Variant : CV154460 (GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3) Homo sapiens

Symbol: CV154460
Name: GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3
Condition: See cases [RCV000134139]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A1BG   A1BG-AS1   AC008969.1   AURKC   BRSK1   C19orf18   CACNG6   CACNG7   CACNG8   CCDC106   CDC42EP5   CHMP2A   CNOT3   COX6B2   DNAAF3   DPRX   DUXA   EDDM13   EPN1   EPS8L1   ERVK3-1   ERVV-1   ERVV-2   FAM71E2   FCAR   FIZ1   GALP   GP6   HSPBP1   IL11   ISOC2   KIR2DL1   KIR2DL3   KIR2DL4   KIR2DS4   KIR3DL1   KIR3DL2   KIR3DL3   KMT5C   LAIR1   LAIR2   LENG1   LENG8   LENG8-AS1   LENG9   LILRA1   LILRA2   LILRA4   LILRA5   LILRA6   LILRB1   LILRB2   LILRB3   LILRB4   LILRB5   LINC01864   LINC02560   LOC101928804   LOC105372480   LOC112553113   LOC112553114   LOC112553115   LOC112553116   LOC112553117   LOC112553118   LOC112553119   LOC112577452   LOC112577453   LOC112577454   LOC113939975   LOC116286196   LOC116286197   MBOAT7   MIMT1   MIR10394   MIR1283-1   MIR1283-2   MIR1323   MIR371A   MIR371B   MIR372   MIR373   MIR4752   MIR4754   MIR498   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   MIR6802   MIR6803   MIR6804   MIR6805   MIR6806   MIR6807   MIR7975   MIR8061   MIR935   MYADM   MYADM-AS1   MZF1   MZF1-AS1   NAT14   NCR1   NDUFA3   NLRP11   NLRP12   NLRP13   NLRP2   NLRP4   NLRP5   NLRP7   NLRP8   NLRP9   OSCAR   PEG3   PEG3-AS1   PPP1R12C   PPP6R1   PRKCG   PRPF31   PTPRH   RDH13   RFPL4A   RFPL4AL1   RNF225   RPL28   RPS5   RPS9   SBK2   SBK3   SHISA7   SLC27A5   SMIM17   SNORD157   SSC5D   SYT5   TARM1   TFPT   TMC4   TMEM150B   TMEM190   TMEM238   TMEM86B   TNNI3   TNNT1   TRAPPC2B   TRIM28   TSEN34   TTYH1   U2AF2   UBE2M   UBE2S   USP29   VN1R1   VN1R2   VN1R4   VSTM1   ZBTB45   ZFP28   ZFP28-DT   ZIK1   ZIM2   ZIM2-AS1   ZIM3   ZNF132   ZNF134   ZNF135   ZNF154   ZNF160   ZNF17   ZNF211   ZNF256   ZNF264   ZNF274   ZNF304   ZNF324   ZNF324B   ZNF329   ZNF331   ZNF347   ZNF415   ZNF416   ZNF417   ZNF418   ZNF419   ZNF444   ZNF446   ZNF460   ZNF460-AS1   ZNF470   ZNF471   ZNF497   ZNF497-AS1   ZNF524   ZNF525   ZNF530   ZNF543   ZNF544   ZNF547   ZNF548   ZNF549   ZNF550   ZNF551   ZNF552   ZNF579   ZNF580   ZNF581   ZNF582   ZNF582-DT   ZNF583   ZNF584   ZNF586   ZNF587   ZNF587B   ZNF606   ZNF628   ZNF665   ZNF667   ZNF667-AS1   ZNF671   ZNF677   ZNF71   ZNF71-SMIM17   ZNF749   ZNF761   ZNF765   ZNF765-ZNF761   ZNF772   ZNF773   ZNF776   ZNF784   ZNF787   ZNF8   ZNF8-DT   ZNF8-ERVK3-1   ZNF805   ZNF813   ZNF814   ZNF816   ZNF816-ZNF321P   ZNF835   ZNF837   ZNF845   ZNF865   ZSCAN1   ZSCAN18   ZSCAN22   ZSCAN4   ZSCAN5A   ZSCAN5B   ZSCAN5C  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_52955056)_(58581203_?)dup
NC_000019.9:g.(?_53458309)_(59092570_?)dup
NC_000019.8:g.(?_58150121)_(63784382_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381952,955,056 - 58,581,203CLINVAR
GRCh371953,458,309 - 59,092,570CLINVAR
Build 361958,150,121 - 63,784,382CLINVAR
Cytogenetic Map1919q13.41-13.43CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481719
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.