Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73758 (GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3) Homo sapiens

Symbol: CV73758
Name: GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3
Condition: See cases [RCV000052963]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM23   CPO   DYTN   FAM237A   FASTKD2   KLF7   MDH1B   MIR3130-1   MIR3130-2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_206391900)_(207078994_?)dup
NC_000002.11:g.(?_207256624)_(207943718_?)dup
NC_000002.10:g.(?_206964869)_(207651963_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382206,391,900 - 207,078,994CLINVAR
GRCh372207,256,624 - 207,943,718CLINVAR
Build 362206,964,869 - 207,651,963CLINVAR
Cytogenetic Map22q33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619932
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.