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Variant : CV158245 (GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1) Homo sapiens

Symbol: CV158245
Name: GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1
Condition: See cases [RCV000137568]
Clinical Significance: uncertain significance|conflicting data from submitters
Last Evaluated: 04/04/2013
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SNORD132   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110649261)_(112331529_?)del
NC_000002.11:g.(?_111406838)_(113089106_?)del
NC_000002.10:g.(?_111123310)_(112805577_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,649,261 - 112,331,529CLINVAR
GRCh372111,406,838 - 113,089,106CLINVAR
Build 362111,123,310 - 112,805,577CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489951
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.