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Variant : CV156007 (GRCh38/hg38 13q34(chr13:114147230-114327173)x3) Homo sapiens

Symbol: CV156007
Name: GRCh38/hg38 13q34(chr13:114147230-114327173)x3
Condition: See cases [RCV000135565]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CDC16   CFAP97D2   CHAMP1   MIR4502   MIR548AR   UPF3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_114147230)_(114327173_?)dup
NC_000013.10:g.(?_114843912)_(115085141_?)dup
NC_000013.9:g.(?_113862014)_(114110750_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3813114,147,230 - 114,327,173 (+)CLINVAR
GRCh3713114,843,912 - 115,085,141 (+)CLINVAR
Build 3613113,862,014 - 114,110,750CLINVAR
Cytogenetic Map1313q34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483137
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.