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Variant : CV73581 (GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1) Homo sapiens

Symbol: CV73581
Name: GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1
Condition: See cases [RCV000052780]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOLD1   ARHGDIB   ART4   ATF7IP   BORCS5   C12orf60   CDKN1B   CREBL2   DDX47   DUSP16   EMP1   ERP27   FAM234B   GPR19   GPRC5A   GPRC5D   GPRC5D-AS1   GRIN2B   GSG1   GUCY2C   H2AJ   H4-16   HEBP1   LINC01489   LINC01559   MGP   MIR613   MIR614   PDE6H   PLBD1   PLBD1-AS1   PTPRO   RERG   RERG-AS1   SMCO3   WBP11  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_12388842)_(15540422_?)del
NC_000012.11:g.(?_12541776)_(15693356_?)del
NC_000012.10:g.(?_12433043)_(15584623_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381212,388,842 - 15,540,422CLINVAR
GRCh371212,541,776 - 15,693,356CLINVAR
Build 361212,433,043 - 15,584,623CLINVAR
Cytogenetic Map1212p13.2-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619753
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.