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Variant : CV159974 (GRCh38/hg38 22q13.33(chr22:49315558-49450259)x3) Homo sapiens

Symbol: CV159974
Name: GRCh38/hg38 22q13.33(chr22:49315558-49450259)x3
Condition: See cases [RCV000139110]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C22orf34  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_49315558)_(49450259_?)dup
NC_000022.10:g.(?_49711483)_(49843908_?)dup
NC_000022.9:g.(?_48097487)_(48229912_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382249,315,558 - 49,450,259CLINVAR
GRCh372249,711,483 - 49,843,908CLINVAR
Build 362248,097,487 - 48,229,912CLINVAR
Cytogenetic Map2222q13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486642
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.