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Variant : CV247999 (GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1) Homo sapiens

Symbol: CV247999
Name: GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1
Condition: See cases [RCV000239873]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADIPOR2   B4GALNT3   CACNA1C   CACNA2D4   CCDC77   CRACR2A   DCP1B   ERC1   FBXL14   FKBP4   FOXM1   IQSEC3   ITFG2   KDM5A   LRTM2   NINJ2   NINJ2-AS1   NRIP2   PARP11   PRMT8   RAD52   RHNO1   SLC6A12   SLC6A13   TEAD4   TSPAN9   TULP3   WNK1   WNT5B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3712222,888 - 3,931,052CLINVAR
Cytogenetic Map1212p13.33-13.32CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541366
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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