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Variant : CV162483 (GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1) Homo sapiens

Symbol: CV162483
Name: GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1
Condition: See cases [RCV000141250]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADIPOR2   B4GALNT3   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   CRACR2A   DCP1B   ERC1   FBXL14   FKBP4   FOXM1   IQSEC3   ITFG2   ITFG2-AS1   KDM5A   LINC00940   LINC00942   LINC02417   LINC02455   LINC02827   LRTM2   MIR3649   NINJ2   NINJ2-AS1   NRIP2   PRMT8   RAD52   RHNO1   SLC6A12   SLC6A13   TEAD4   TEX52   TSPAN9   TULP3   WNK1   WNT5B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_54427)_(3639603_?)del
NC_000012.11:g.(?_282465)_(3748769_?)del
NC_000012.10:g.(?_33854)_(3619030_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381254,427 - 3,639,603CLINVAR
GRCh3712282,465 - 3,748,769 (+)CLINVAR
Build 361233,854 - 3,619,030CLINVAR
Cytogenetic Map1212p13.33-13.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488777
Created: 2014-09-09
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.