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Variant : CV158054 (GRCh38/hg38 13q34(chr13:111118651-114340331)x3) Homo sapiens

Symbol: CV158054
Name: GRCh38/hg38 13q34(chr13:111118651-114340331)x3
Condition: See cases [RCV000137378]
Clinical Significance: likely pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ARHGEF7   ARHGEF7-AS1   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   C13orf46   CDC16   CFAP97D2   CHAMP1   CUL4A   DCUN1D2   F10   F10-AS1   F7   GAS6   GAS6-AS1   GAS6-DT   GRK1   GRTP1   GRTP1-AS1   LAMP1   LINC00354   LINC00452   LINC00454   LINC00552   LINC00565   LINC01043   LINC01044   LINC01054   LINC01070   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   MIR4502   MIR548AR   MIR8075   PCID2   PROZ   RASA3   SOX1   SOX1-OT   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TUBGCP3   UPF3A  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_111118651)_(114340331_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3813111,118,651 - 114,340,331CLINVAR
GRCh3713111,770,998 - 115,085,141 (+)CLINVAR
Build 3613110,568,999 - 114,123,908CLINVAR
Cytogenetic Map1313q34CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9484935
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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