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Variant : CV247804 (GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3) Homo sapiens

Symbol: CV247804
Name: GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3
Condition: See cases [RCV000240519]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABHD5   ACAA1   ACKR2   ACVR2B   ALS2CL   AMIGO3   AMT   ANO10   APEH   ARIH2   ARIH2OS   ATRIP   BSN   C3orf35   C3orf62   C3orf84   CAMKV   CAMP   CCDC12   CCDC13   CCDC36   CCDC51   CCDC71   CCK   CCR1   CCR2   CCR3   CCR5   CCR8   CCR9   CCRL2   CDC25A   CDCP1   CDHR4   CELSR3   CLEC3B   COL7A1   CSPG5   CSRNP1   CTDSPL   CTNNB1   CX3CR1   CXCR6   CYP8B1   DAG1   DALRD3   DHX30   DLEC1   EIF1B   ELP6   ENTPD3   EPM2AIP1   EXOG   EXOSC7   FBXW12   FYCO1   GASK1A   GMPPB   GOLGA4   GORASP1   GPX1   HHATL   HIGD1A   IMPDH2   INKA1   IP6K1   IP6K2   ITGA9   KIAA1143   KIF15   KIF9   KLHDC8B   KLHL18   KLHL40   KRBOX1   KRBOX1-AS1   LAMB2   LARS2   LIMD1   LRRC2   LRRFIP2   LTF   LYZL4   LZTFL1   MAP4   MIR138-1   MIR191   MIR26A1   MLH1   MOBP   MST1   MST1R   MYD88   MYL3   MYRIP   NBEAL2   NCKIPSD   NDUFAF3   NICN1   NKTR   NME6   OXSR1   P4HTM   PFKFB4   PLCD1   PLXNB1   POMGNT2   PRKAR2A   PRSS50   PTH1R   PTPN23   QARS1   QRICH1   RHOA   RNF123   RPL14   RPSA   RTP3   SACM1L   SCAP   SCN10A   SCN11A   SCN5A   SEC22C   SETD2   SHISA5   SLC22A13   SLC22A14   SLC25A20   SLC25A38   SLC26A6   SLC6A20   SMARCC1   SNORA62   SNRK   SPINK8   SS18L2   TCAIM   TCTA   TDGF1   TGM4   TMA7   TMEM158   TMEM42   TMEM89   TMIE   TOPAZ1   TRAIP   TRAK1   TREX1   TTC21A   UBA7   UCN2   ULK4   UQCRC1   USP19   USP4   VILL   VIPR1   WDR48   WDR6   XCR1   XIRP1   XYLB   ZBTB47   ZDHHC3   ZKSCAN7   ZNF197   ZNF35   ZNF445   ZNF501   ZNF502   ZNF589   ZNF619   ZNF620   ZNF621   ZNF660   ZNF662   ZNF852  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37337,028,313 - 49,929,220CLINVAR
Cytogenetic Map33p22.2-21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541904
Created: 2016-10-11
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.