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Variant : CV165173 (GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3) Homo sapiens

Symbol: CV165173
Name: GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3
Condition: See cases [RCV000143486]
Clinical Significance: uncertain significance
Last Evaluated: 07/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AL079301.1   ARHGAP8   ATXN10   CDPF1   FAM118A   FBLN1   GTSE1   GTSE1-DT   KIAA0930   LINC00899   LINC01589   LOC105373064   LOC107181287   LOC108660404   LOC110121397   LOC111556137   LOC111828508   LOC112695103   LOC112695104   LOC112695105   LOC114004364   LOC642648   MIR1249   MIR3619   MIR4762   MIR4763   MIRLET7A3   MIRLET7B   MIRLET7BHG   NUP50   NUP50-DT   PHF21B   PKDREJ   PPARA   PRR34   PRR34-AS1   PRR5-ARHGAP8   RIBC2   SMC1B   TRMU   TTC38   UPK3A   WNT7B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_44832749)_(46353315_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382244,832,749 - 46,353,315CLINVAR
GRCh372245,228,629 - 46,749,212CLINVAR
Build 362243,607,293 - 45,127,876CLINVAR
Cytogenetic Map2222q13.31CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491084
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.