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Variant : CV157693 (GRCh38/hg38 22q13.32-13.33(chr22:49020386-49584833)x3) Homo sapiens

Symbol: CV157693
Name: GRCh38/hg38 22q13.32-13.33(chr22:49020386-49584833)x3
Condition: See cases [RCV000137048]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: C22orf34   MIR3667  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_49020386)_(49584833_?)dup
NC_000022.10:g.(?_49416198)_(49978481_?)dup
NC_000022.9:g.(?_47802202)_(48364485_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382249,020,386 - 49,584,833CLINVAR
GRCh372249,416,198 - 49,978,481CLINVAR
Build 362247,802,202 - 48,364,485CLINVAR
Cytogenetic Map2222q13.32-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484608
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.