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Variant : CV170688 (GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1) Homo sapiens

Symbol: CV170688
Name: GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1
Condition: See cases [RCV000148099]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|criteria provided, multiple submitters, no conflicts|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110684553)_(112308202_?)del
NC_000002.11:g.(?_111442130)_(113065779_?)del
NC_000002.10:g.(?_111158601)_(112782250_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,684,553 - 112,308,202CLINVAR
GRCh372111,442,130 - 113,065,779CLINVAR
Build 362111,158,601 - 112,782,250CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9684648
Created: 2014-12-09
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.