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Variant : CV555169 (GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1) Homo sapiens

Symbol: CV555169
Name: GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1
Condition: not provided [RCV000683474]
Clinical Significance: pathogenic
Last Evaluated: 04/03/2018
Review Status: no assertion criteria provided
Related Genes: ADIPOR2   AKAP3   ANO2   B4GALNT3   C12orf4   CACNA1C   CACNA2D4   CCDC77   CCND2   CRACR2A   DCP1B   DYRK4   ERC1   FBXL14   FGF23   FGF6   FKBP4   FOXM1   GALNT8   IQSEC3   ITFG2   KCNA1   KCNA5   KCNA6   KDM5A   LRTM2   NDUFA9   NINJ2   NINJ2-AS1   NRIP2   NTF3   PARP11   PRMT8   RAD51AP1   RAD52   RHNO1   SLC6A12   SLC6A13   TEAD4   TIGAR   TSPAN9   TULP3   WNK1   WNT5B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3712173,786 - 5,952,112CLINVAR
Cytogenetic Map1212p13.33-13.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13796795
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.