GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4Rat Genome Database
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Variant : CV156037 (GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4) Homo sapiens

Symbol: CV156037
Name: GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4
RGD ID: 9483163
Condition: See cases [RCV000135591]
Clinical Significance: uncertain significance
Last Evaluated: 09/27/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADPRH   ARHGAP31   ARHGAP31-AS1   B4GALT4   B4GALT4-AS1   CD80   CFAP91   COX17   FSTL1   GPR156   GSK3B   GTF2E1   HGD   IGSF11   IGSF11-AS1   LOC101926968   LOC105374060   LOC112848344   LOC112872290   LOC112872291   LOC115995517   LRRC58   MIR198   MIR6529   NDUFB4   NR1I2   PLA1A   POGLUT1   POPDC2   RABL3   TEX55   TIMMDC1   TMEM39A   UPK1B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_117844958)_(120797026_?)dup
NC_000003.11:g.(?_117563805)_(120515873_?)dup
NC_000003.10:g.(?_119046495)_(121998563_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383117,844,958 - 120,797,026CLINVAR
GRCh373117,563,805 - 120,515,873CLINVAR
Build 363119,046,495 - 121,998,563CLINVAR
Cytogenetic Map33q13.32-13.33CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000135591 CLINVAR
NCBI Gene 101926968 CLINVAR
  105374060 CLINVAR
  112848344 CLINVAR
  112872290 CLINVAR
  112872291 CLINVAR
  115995517 CLINVAR
  ADPRH CLINVAR
  ARHGAP31 CLINVAR
  ARHGAP31-AS1 CLINVAR
  B4GALT4 CLINVAR
  B4GALT4-AS1 CLINVAR
  C3orf30 CLINVAR
  CD80 CLINVAR
  COX17 CLINVAR
  FSTL1 CLINVAR
  GPR156 CLINVAR
  GSK3B CLINVAR
  GTF2E1 CLINVAR
  HGD CLINVAR
  IGSF11 CLINVAR
  IGSF11-AS1 CLINVAR
  LRRC58 CLINVAR
  MAATS1 CLINVAR
  MIR198 CLINVAR
  MIR6529 CLINVAR
  NDUFB4 CLINVAR
  NR1I2 CLINVAR
  PLA1A CLINVAR
  POGLUT1 CLINVAR
  POPDC2 CLINVAR
  RABL3 CLINVAR
  TIMMDC1 CLINVAR
  TMEM39A CLINVAR
  UPK1B CLINVAR
OMIM 112203 CLINVAR
  189962 CLINVAR
  602380 CLINVAR
  603065 CLINVAR
  603081 CLINVAR
  603840 CLINVAR
  604015 CLINVAR
  604813 CLINVAR
  605004 CLINVAR
  605547 CLINVAR
  605823 CLINVAR
  607460 CLINVAR
  607474 CLINVAR
  608351 CLINVAR
  609910 CLINVAR
  610464 CLINVAR
  610911 CLINVAR
  615534 CLINVAR
  615618 CLINVAR
  618542 CLINVAR