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Variant : CV159310 (GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3) Homo sapiens

Symbol: CV159310
Name: GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3
Condition: See cases [RCV000138556]
Clinical Significance: uncertain significance
Last Evaluated: 05/03/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC157   DUSP18   GAL3ST1   KIAA1656   LOC105372990   LOC107275224   LOC107275225   LOC107985544   LOC108178988   LOC112695080   LOC112695081   LOC112695084   MIR3200   MORC2   MORC2-AS1   MTFP1   OSBP2   PES1   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SF3A1   SLC35E4   TBC1D10A   TCN2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_30312256)_(30950316_?)dup
NC_000022.10:g.(?_30708245)_(31346302_?)dup
NC_000022.9:g.(?_29038245)_(29676302_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382230,312,256 - 30,950,316CLINVAR
GRCh372230,708,245 - 31,346,302CLINVAR
Build 362229,038,245 - 29,676,302CLINVAR
Cytogenetic Map2222q12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486096
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.