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Variant : CV155756 (GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1) Homo sapiens

Symbol: CV155756
Name: GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1
Condition: See cases [RCV000135331]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by 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   RERG   RERG-AS1   SMCO3   WBP11  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_12363649)_(15280588_?)del
Human AssemblyChrPosition (strand)Source
GRCh381212,363,649 - 15,280,588 (+)CLINVAR
GRCh371212,514,722 - 15,433,522CLINVAR
Build 361212,405,989 - 15,324,789CLINVAR
Cytogenetic Map1212p13.2-12.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9482904
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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