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Variant : CV165243 (GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3) Homo sapiens

Symbol: CV165243
Name: GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3
Condition: See cases [RCV000143556]
Clinical Significance: uncertain significance
Last Evaluated: 08/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   C13orf46   CARS2   CDC16   CFAP97D2   CHAMP1   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   CUL4A   DAOA   DAOA-AS1   DCUN1D2   EFNB2   F10   F10-AS1   F7   FAM155A   FAM155A-IT1   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   ING1   IRS2   LAMP1   LIG4   LINC00343   LINC00354   LINC00368   LINC00370   LINC00396   LINC00399   LINC00431   LINC00443   LINC00452   LINC00454   LINC00460   LINC00551   LINC00552   LINC00565   LINC00567   LINC00676   LINC01043   LINC01044   LINC01054   LINC01070   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   MIR1267   MIR4502   MIR548AR   MIR8073   MIR8075   MYO16   MYO16-AS1   NAXD   PCID2   PRECSIT   PROZ   RAB20   RASA3   SNORD31B   SOX1   SOX1-OT   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TNFSF13B   TUBGCP3   UPF3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_105423935)_(114342258_?)dup
NC_000013.10:g.(?_106076284)_(115107733_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3813105,423,935 - 114,342,258CLINVAR
GRCh3713106,076,284 - 115,107,733CLINVAR
Build 3613104,874,285 - 114,125,835CLINVAR
Cytogenetic Map1313q33.2-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491154
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.