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Variant : CV157845 (GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3) Homo sapiens

Symbol: CV157845
Name: GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3
Condition: See cases [RCV000137176]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: FBLL1   MIR103A1   MIR103B1   MIR218-2   PANK3   RARS1   SLIT3   SLIT3-AS1   SLIT3-AS2   TENM2   WWC1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_168234662)_(169027391_?)dup
NC_000005.9:g.(?_167661667)_(168454396_?)dup
NC_000005.8:g.(?_167594245)_(168386974_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385168,234,662 - 169,027,391CLINVAR
GRCh375167,661,667 - 168,454,396CLINVAR
Build 365167,594,245 - 168,386,974CLINVAR
Cytogenetic Map55q34-35.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484735
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.