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Variant : CV73722 (GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3) Homo sapiens

Symbol: CV73722
Name: GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3
Condition: Posteriorly rotated ears [RCV000052926]|See cases [RCV000052926]
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   AURKC   BRSK1   C19orf18   C19orf84   CACNG6   CACNG7   CACNG8   CCDC106   CD33   CDC42EP5   CEACAM18   CLDND2   CNOT3   COX6B2   DNAAF3   DPRX   DUXA   EDDM13   EPN1   EPS8L1   ERVK3-1   ERVV-1   ERVV-2   ETFB   FAM71E2   FCAR   FIZ1   FPR1   FPR2   FPR3   GALP   GP6   HAS1   HSPBP1   IGLON5   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   LIM2   LINC01530   LINC01864   LINC01872   LINC02560   MBOAT7   MIMT1   MIR10394   MIR125A   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   MIR643   MIR6801   MIR6802   MIR6803   MIR6804   MIR6805   MIR6806   MIR7975   MIR8061   MIR8074   MIR935   MIR99B   MIRLET7E   MYADM   MYADM-AS1   NAT14   NCR1   NDUFA3   NKG7   NLRP11   NLRP12   NLRP13   NLRP2   NLRP4   NLRP5   NLRP7   NLRP8   NLRP9   OSCAR   PEG3   PEG3-AS1   PPP1R12C   PPP2R1A   PPP6R1   PRKCG   PRPF31   PTPRH   RDH13   RFPL4A   RFPL4AL1   RNF225   RPL28   RPS5   RPS9   SBK2   SBK3   SHISA7   SIGLEC10   SIGLEC12   SIGLEC14   SIGLEC5   SIGLEC6   SIGLEC7   SIGLEC8   SIGLECL1   SLC27A5   SMIM17   SNORD157   SPACA6   SPACA6P-AS   SSC5D   SYT5   TARM1   TFPT   TMC4   TMEM150B   TMEM190   TMEM238   TMEM86B   TNNI3   TNNT1   TRAPPC2B   TSEN34   TTYH1   U2AF2   UBE2S   USP29   VN1R1   VN1R2   VN1R4   VSIG10L   VSTM1   ZBTB45   ZFP28   ZIK1   ZIM2   ZIM2-AS1   ZIM3   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   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  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_51141518)_(58539965_?)dup
NC_000019.9:g.(?_51644775)_(59051332_?)dup
NC_000019.8:g.(?_56336587)_(63743144_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381951,141,518 - 58,539,965CLINVAR
GRCh371951,644,775 - 59,051,332CLINVAR
Build 361956,336,587 - 63,743,144CLINVAR
Cytogenetic Map1919q13.41-13.43CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619895
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.