GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3Rat Genome Database

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Variant : CV157372 (GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3) Homo sapiens

Symbol: CV157372
Name: GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3
RGD ID: 9484346
Condition: See cases [RCV000136785]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACO2   AL023553.1   CCDC134   CENPM   CSDC2   CYP2D6   CYP2D7   DESI1   LINC00634   LINC01315   LOC108348030   LOC110740340   LOC110740341   LOC111562373   LOC112695097   LOC112695098   LOC112695099   MEI1   MIR33A   MIR378I   NAGA   NDUFA6   NDUFA6-DT   NFAM1   PHETA2   PHF5A   PMM1   POLR3H   RANGAP1   SEPTIN3   SHISA8   SMDT1   SNU13   SREBF2   SREBF2-AS1   TCF20   TEF   TNFRSF13C   TOB2   WBP2NL   XRCC6   ZC3H7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_41277822)_(42414957_?)dup
NC_000022.10:g.(?_41673826)_(42810963_?)dup
NC_000022.9:g.(?_40003772)_(41140907_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382241,277,822 - 42,414,957CLINVAR
GRCh372241,673,826 - 42,810,963CLINVAR
Build 362240,003,772 - 41,140,907CLINVAR
Cytogenetic Map2222q13.2CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000136785 CLINVAR
NCBI Gene 105373044 CLINVAR
  108348030 CLINVAR
  110740340 CLINVAR
  110740341 CLINVAR
  111562373 CLINVAR
  112695097 CLINVAR
  112695098 CLINVAR
  112695099 CLINVAR
  ACO2 CLINVAR
  CCDC134 CLINVAR
  CENPM CLINVAR
  CSDC2 CLINVAR
  CYP2D6 CLINVAR
  CYP2D7 CLINVAR
  DESI1 CLINVAR
  FAM109B CLINVAR
  LINC00634 CLINVAR
  LINC01315 CLINVAR
  MEI1 CLINVAR
  MIR33A CLINVAR
  MIR378I CLINVAR
  NAGA CLINVAR
  NDUFA6 CLINVAR
  NDUFA6-AS1 CLINVAR
  NFAM1 CLINVAR
  NHP2L1 CLINVAR
  PHF5A CLINVAR
  PMM1 CLINVAR
  POLR3H CLINVAR
  RANGAP1 CLINVAR
  SEPT3 CLINVAR
  SHISA8 CLINVAR
  SMDT1 CLINVAR
  SREBF2 CLINVAR
  SREBF2-AS1 CLINVAR
  TCF20 CLINVAR
  TEF CLINVAR
  TNFRSF13C CLINVAR
  TOB2 CLINVAR
  WBP2NL CLINVAR
  XRCC6 CLINVAR
  ZC3H7B CLINVAR
OMIM 100850 CLINVAR
  104170 CLINVAR
  124030 CLINVAR
  152690 CLINVAR
  188595 CLINVAR
  600481 CLINVAR
  601304 CLINVAR
  601786 CLINVAR
  602138 CLINVAR
  602362 CLINVAR
  603107 CLINVAR
  606269 CLINVAR
  607396 CLINVAR
  608314 CLINVAR
  608740 CLINVAR
  608797 CLINVAR
  610152 CLINVAR
  610981 CLINVAR
  612156 CLINVAR
  614240 CLINVAR
  614637 CLINVAR
  615588 CLINVAR
  617329 CLINVAR
  617689 CLINVAR
  617846 CLINVAR
  618206 CLINVAR
  618788 CLINVAR