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Variant : CV153919 (GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4) Homo sapiens

Symbol: CV153919
Name: GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4
Condition: See cases [RCV000133650]
Clinical Significance: pathogenic
Last Evaluated: 09/23/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALS2CL   AMIGO3   AMT   APEH   ARIH2   ARIH2OS   ATRIP   BSN   BSN-DT   C3orf18   C3orf62   C3orf84   CACNA2D2   CAMKV   CAMP   CCDC12   CCDC36   CCDC51   CCDC71   CCR1   CCR2   CCR3   CCR5   CCR5AS   CCR9   CCRL2   CDC25A   CDHR4   CELSR3   CISH   COL7A1   CSPG5   CXCR6   CYB561D2   DAG1   DALRD3   DHX30   DOCK3   ELP6   FAM240A   FBXW12   FYCO1   GMPPB   GNAI2   GNAT1   GPX1   HEMK1   HYAL1   HYAL2   HYAL3   IFRD2   IMPDH2   INKA1   IP6K1   IP6K2   KIF9   KIF9-AS1   KLHDC8B   KLHL18   LAMB2   LINC02009   LINC02019   LINC02585   LRRC2   LRRC2-AS1   LSMEM2   LTF   LZTFL1   MAP4   MAPKAPK3   MIR1226   MIR191   MIR2115   MIR425   MIR4271   MIR4443   MIR4787   MIR4793   MIR5193   MIR5787   MIR6823   MIR6824   MIR6872   MIR6890   MIR711   MON1A   MST1   MST1R   MYL3   NAA80   NBEAL2   NCKIPSD   NDUFAF3   NICN1   NME6   NPRL2   P4HTM   PFKFB4   PLXNB1   PRKAR2A   PRKAR2A-AS1   PRSS50   PTH1R   PTPN23   QARS1   QRICH1   RASSF1   RASSF1-AS1   RBM5   RBM5-AS1   RBM6   RHOA   RNF123   RTP3   SCAP   SEMA3B   SEMA3B-AS1   SEMA3F   SEMA3F-AS1   SETD2   SHISA5   SLC25A20   SLC26A6   SLC38A3   SMARCC1   SNORA94   SNORD13J   SNORD146   SPINK8   TCTA   TDGF1   TMA7   TMEM115   TMEM89   TMIE   TRAIP   TREX1   TUSC2   UBA7   UCN2   UQCRC1   USP19   USP4   WDR6   XCR1   ZMYND10   ZNF589  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_45879883)_(50749922_?)dup
NC_000003.11:g.(?_45921375)_(50787353_?)dup
NC_000003.10:g.(?_45896379)_(50762357_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38345,879,883 - 50,749,922CLINVAR
GRCh37345,921,375 - 50,787,353CLINVAR
Build 36345,896,379 - 50,762,357CLINVAR
Cytogenetic Map33p21.31-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481235
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.