NC_000011.9:g.(?_64973914)_(70052579_?)dupRat Genome Database

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Variant : CV1949847 (NC_000011.9:g.(?_64973914)_(70052579_?)dup) Homo sapiens

Symbol: CV1949847
Name: NC_000011.9:g.(?_64973914)_(70052579_?)dup
RGD ID: 156438208
Condition: Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753]
Clinical Significance: uncertain significance
Last Evaluated: 08/21/2022
Review Status: criteria provided, single submitter
Related Genes: ACTN3   ACY3   AIP   ALDH3B1   ALDH3B2   ANKRD13D   ANO1   AP5B1   B4GAT1   BANF1   BBS1   BRMS1   C11orf24   C11orf68   C11orf86   CABP2   CABP4   CAPN1   CARNS1   CATSPER1   CCDC85B   CCDC87   CCND1   CCS   CD248   CDC42EP2   CDK2AP2   CFL1   CHKA   CLCF1   CNIH2   CORO1B   CPT1A   CST6   CTSF   CTSW   DPF2   DPP3   DRAP1   EFEMP2   EHBP1L1   EIF1AD   FADD   FAM89B   FGF19   FGF3   FGF4   FIBP   FOSL1   FRMD8   GAL   GAL3ST3   GPR152   GRK2   GSTP1   IGHMBP2   KAT5   KCNK7   KDM2A   KLC2   KMT5B   LRFN4   LRP5   LTBP3   LTO1   MALAT1   MAP3K11   MRGPRD   MRGPRF   MRPL11   MRPL21   MUS81   MYEOV   NDUFS8   NDUFV1   NDUFV1-DT   NEAT1   NPAS4   NUDT8   OVOL1   PACS1   PC   PCNX3   PELI3   PITPNM1   POLA2   POLD4   PPP1CA   PPP6R3   PTPRCAP   RAB1B   RAD9A   RBM14   RBM14-RBM4   RBM4   RBM4B   RCE1   RELA   RHOD   RIN1   RNASEH2C   RPS6KB2   SART1   SCYL1   SF3B2   SIPA1   SLC25A45   SLC29A2   SNX32   SPTBN2   SSH3   SYT12   TBC1D10C   TBX10   TCIRG1   TESMIN   TIGD3   TMEM134   TMEM151A   TOP6BL   TPCN2   TSGA10IP   UNC93B1   YIF1A   ZDHHC24   ZNRD2  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_64973914)_(70052579_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371164,973,914 - 70,052,579CLINVAR
Cytogenetic Map1111q13.1-13.3CLINVAR
Trait Synonyms: FADD DEFICIENCY; Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003107753 CLINVAR
  RCV003113322 CLINVAR
MedGen C1835916 CLINVAR
  C3151062 CLINVAR
NCBI Gene ACTN3 CLINVAR
  ACY3 CLINVAR
  AIP CLINVAR
  ALDH3B1 CLINVAR
  ALDH3B2 CLINVAR
  ANKRD13D CLINVAR
  ANO1 CLINVAR
  AP5B1 CLINVAR
  B4GAT1 CLINVAR
  BANF1 CLINVAR
  BBS1 CLINVAR
  BRMS1 CLINVAR
  C11orf24 CLINVAR
  C11orf68 CLINVAR
  C11orf80 CLINVAR
  C11orf86 CLINVAR
  CABP2 CLINVAR
  CABP4 CLINVAR
  CAPN1 CLINVAR
  CARNS1 CLINVAR
  CATSPER1 CLINVAR
  CCDC85B CLINVAR
  CCDC87 CLINVAR
  CCND1 CLINVAR
  CCS CLINVAR
  CD248 CLINVAR
  CDC42EP2 CLINVAR
  CDK2AP2 CLINVAR
  CFL1 CLINVAR
  CHKA CLINVAR
  CLCF1 CLINVAR
  CNIH2 CLINVAR
  CORO1B CLINVAR
  CPT1A CLINVAR
  CST6 CLINVAR
  CTSF CLINVAR
  CTSW CLINVAR
  DPF2 CLINVAR
  DPP3 CLINVAR
  DRAP1 CLINVAR
  EFEMP2 CLINVAR
  EHBP1L1 CLINVAR
  EIF1AD CLINVAR
  FADD CLINVAR
  FAM89B CLINVAR
  FGF19 CLINVAR
  FGF3 CLINVAR
  FGF4 CLINVAR
  FIBP CLINVAR
  FOSL1 CLINVAR
  FRMD8 CLINVAR
  GAL CLINVAR
  GAL3ST3 CLINVAR
  GPR152 CLINVAR
  GRK2 CLINVAR
  GSTP1 CLINVAR
  IGHMBP2 CLINVAR
  KAT5 CLINVAR
  KCNK7 CLINVAR
  KDM2A CLINVAR
  KLC2 CLINVAR
  KMT5B CLINVAR
  LRFN4 CLINVAR
  LRP5 CLINVAR
  LTBP3 CLINVAR
  LTO1 CLINVAR
  MALAT1 CLINVAR
  MAP3K11 CLINVAR
  MRGPRD CLINVAR
  MRGPRF CLINVAR
  MRPL11 CLINVAR
  MRPL21 CLINVAR
  MUS81 CLINVAR
  MYEOV CLINVAR
  NDUFS8 CLINVAR
  NDUFV1 CLINVAR
  NDUFV1-DT CLINVAR
  NEAT1 CLINVAR
  NPAS4 CLINVAR
  NUDT8 CLINVAR
  OVOL1 CLINVAR
  PACS1 CLINVAR
  PC CLINVAR
  PCNX3 CLINVAR
  PELI3 CLINVAR
  PITPNM1 CLINVAR
  POLA2 CLINVAR
  POLD4 CLINVAR
  PPP1CA CLINVAR
  PPP6R3 CLINVAR
  PTPRCAP CLINVAR
  RAB1B CLINVAR
  RAD9A CLINVAR
  RBM14 CLINVAR
  RBM14-RBM4 CLINVAR
  RBM4 CLINVAR
  RBM4B CLINVAR
  RCE1 CLINVAR
  RELA CLINVAR
  RHOD CLINVAR
  RIN1 CLINVAR
  RNASEH2C CLINVAR
  RPS6KB2 CLINVAR
  SART1 CLINVAR
  SCYL1 CLINVAR
  SF3B2 CLINVAR
  SIPA1 CLINVAR
  SLC25A45 CLINVAR
  SLC29A2 CLINVAR
  SNX32 CLINVAR
  SPTBN2 CLINVAR
  SSH3 CLINVAR
  SYT12 CLINVAR
  TBC1D10C CLINVAR
  TBX10 CLINVAR
  TCIRG1 CLINVAR
  TESMIN CLINVAR
  TIGD3 CLINVAR
  TMEM134 CLINVAR
  TMEM151A CLINVAR
  TPCN2 CLINVAR
  TSGA10IP CLINVAR
  UNC93B1 CLINVAR
  YIF1A CLINVAR
  ZDHHC24 CLINVAR
  ZNRD2 CLINVAR
OMIM 102574 CLINVAR
  109635 CLINVAR
  114220 CLINVAR
  118491 CLINVAR
  134660 CLINVAR
  136515 CLINVAR
  137035 CLINVAR
  161015 CLINVAR
  164014 CLINVAR
  164950 CLINVAR
  164980 CLINVAR
  168461 CLINVAR
  176875 CLINVAR
  209901 CLINVAR
  600050 CLINVAR
  600466 CLINVAR
  600502 CLINVAR
  600528 CLINVAR
  601409 CLINVAR
  601442 CLINVAR
  601577 CLINVAR
  601671 CLINVAR
  601891 CLINVAR
  601917 CLINVAR
  602090 CLINVAR
  602110 CLINVAR
  602141 CLINVAR
  602180 CLINVAR
  602289 CLINVAR
  602313 CLINVAR
  602364 CLINVAR
  602457 CLINVAR
  602571 CLINVAR
  603506 CLINVAR
  603539 CLINVAR
  603761 CLINVAR
  603811 CLINVAR
  603864 CLINVAR
  603891 CLINVAR
  603940 CLINVAR
  604374 CLINVAR
  604592 CLINVAR
  604633 CLINVAR
  604648 CLINVAR
  604985 CLINVAR
  605360 CLINVAR
  605385 CLINVAR
  605517 CLINVAR
  605555 CLINVAR
  605591 CLINVAR
  605625 CLINVAR
  605657 CLINVAR
  605781 CLINVAR
  605941 CLINVAR
  605965 CLINVAR
  606044 CLINVAR
  606064 CLINVAR
  606132 CLINVAR
  606259 CLINVAR
  606389 CLINVAR
  606436 CLINVAR
  606591 CLINVAR
  606780 CLINVAR
  606818 CLINVAR
  607224 CLINVAR
  607231 CLINVAR
  607233 CLINVAR
  607314 CLINVAR
  607492 CLINVAR
  607672 CLINVAR
  607924 CLINVAR
  607982 CLINVAR
  608204 CLINVAR
  608234 CLINVAR
  608296 CLINVAR
  608554 CLINVAR
  608786 CLINVAR
  608794 CLINVAR
  608939 CLINVAR
  608965 CLINVAR
  609827 CLINVAR
  609849 CLINVAR
  610108 CLINVAR
  610329 CLINVAR
  610330 CLINVAR
  610825 CLINVAR
  610831 CLINVAR
  610879 CLINVAR
  610880 CLINVAR
  610881 CLINVAR
  611288 CLINVAR
  611484 CLINVAR
  611525 CLINVAR
  611729 CLINVAR
  611826 CLINVAR
  611834 CLINVAR
  612163 CLINVAR
  612409 CLINVAR
  612565 CLINVAR
  612769 CLINVAR
  612810 CLINVAR
  613368 CLINVAR
  613759 CLINVAR
  614367 CLINVAR
  614413 CLINVAR
  615126 CLINVAR
  616109 CLINVAR
  616128 CLINVAR
  617657 CLINVAR
  618337 CLINVAR
  618473 CLINVAR
  619084 CLINVAR
  619583 CLINVAR
  620061 CLINVAR
  620063 CLINVAR
  620108 CLINVAR
  621045 CLINVAR
  621073 CLINVAR