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Variant : CV153945 (GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3) Homo sapiens

Symbol: CV153945
Name: GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3
Condition: See cases [RCV000133676]
Clinical Significance: pathogenic
Last Evaluated: 05/27/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCG1   ADAMTS1   ADAMTS5   AP000251.1   AP000289.1   AP000459.3   AP000688.1   AP000688.2   AP001042.3   AP001625.3   APP   ATP5PF   ATP5PO   B3GALT5   B3GALT5-AS1   BACE2   BACH1   BACH1-IT2   BACH1-IT3   BAGE2   BRWD1   BRWD1-AS1   BRWD1-AS2   BTG3   BTG3-AS1   C21orf62   C21orf62-AS1   C21orf91   C21orf91-OT1   C2CD2   CBR1   CBR3   CBR3-AS1   CCT8   CFAP298   CFAP298-TCP10L   CHAF1B   CHODL   CHODL-AS1   CLDN14   CLDN17   CLDN8   CLIC6   CRYZL1   CXADR   CYYR1   CYYR1-AS1   DNAJC28   DONSON   DOP1B   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ERVH48-1   ETS2   EVA1C   FAM243A   FAM243B   FAM3B   GABPA   GART   GET1   GET1-SH3BGR   GRIK1   GRIK1-AS1   GRIK1-AS2   HLCS   HMGN1   HSPA13   HUNK   IFNAR1   IFNAR2   IFNGR2   IGSF5   IL10RB   IL10RB-DT   ITSN1   JAM2   KCNE1   KCNE1B   KCNE2   KCNJ15   KCNJ6   KCNJ6-AS1   KRTAP11-1   KRTAP13-1   KRTAP13-2   KRTAP13-3   KRTAP13-4   KRTAP15-1   KRTAP19-1   KRTAP19-2   KRTAP19-3   KRTAP19-4   KRTAP19-5   KRTAP19-6   KRTAP19-7   KRTAP19-8   KRTAP20-1   KRTAP20-2   KRTAP20-3   KRTAP20-4   KRTAP21-1   KRTAP21-2   KRTAP21-3   KRTAP22-1   KRTAP22-2   KRTAP23-1   KRTAP24-1   KRTAP25-1   KRTAP26-1   KRTAP27-1   KRTAP6-1   KRTAP6-2   KRTAP6-3   KRTAP7-1   KRTAP8-1   LCA5L   LINC00111   LINC00112   LINC00113   LINC00114   LINC00158   LINC00159   LINC00160   LINC00161   LINC00189   LINC00307   LINC00308   LINC00310   LINC00314   LINC00317   LINC00320   LINC00323   LINC00479   LINC00515   LINC00649   LINC00945   LINC01423   LINC01425   LINC01426   LINC01436   LINC01548   LINC01549   LINC01666   LINC01667   LINC01668   LINC01671   LINC01673   LINC01674   LINC01683   LINC01684   LINC01687   LINC01689   LINC01690   LINC01692   LINC01695   LINC01697   LINC01700   LINC02246   LINC02573   LIPI   LOC400867   LTN1   MAP3K7CL   MIR10396A   MIR10396B   MIR125B2   MIR155   MIR155HG   MIR3118-1   MIR3156-3   MIR3197   MIR3648-1   MIR3648-2   MIR4327   MIR4759   MIR4760   MIR548X   MIR548XHG   MIR5692B   MIR6130   MIR6501   MIR6508   MIR6724-1   MIR6724-2   MIR6724-3   MIR6724-4   MIR6814   MIR802   MIR8069-2   MIR99A   MIR99AHG   MIRLET7C   MIS18A   MORC3   MRAP   MRAP-AS1   MRPL39   MRPS6   MX1   MX2   N6AMT1   NCAM2   NDUFV3   NRIP1   OLIG1   OLIG2   PAXBP1   PAXBP1-AS1   PCP4   PCSEAT   PDE9A   PDE9A-AS1   PIGP   PLAC4   POTED   PRDM15   PSMG1   RBM11   RCAN1   RIPK4   RIPPLY3   RNA18SN1   RNA18SN2   RNA18SN3   RNA28SN1   RNA28SN2   RNA28SN3   RNA45SN1   RNA45SN2   RNA45SN3   RNA5-8SN1   RNA5-8SN2   RNA5-8SN3   RSPH1   RUNX1   RUNX1   RUNX1-IT1   RWDD2B   SAMSN1   SAMSN1-AS1   SCAF4   SETD4   SETD4-AS1   SH3BGR   SIM2   SLC37A1   SLC5A3   SMIM11A   SMIM11B   SMIM34A   SMIM34B   SNORA80A   SNORA91   SNORD74B   SOD1   SON   SYNJ1   TCP10L   TFF1   TFF2   TFF3   TIAM1   TMEM50B   TMPRSS15   TMPRSS2   TMPRSS3   TPTE   TRG-GCC1-5   TTC3   TTC3-AS1   UBASH3A   UMODL1   UMODL1-AS1   URB1   URB1-AS1   USP16   USP25   VPS26C   WDR4   ZBTB21   ZNF295-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7749532)_(42971047_?)dup
NC_000021.8:g.(?_15499847)_(44391157_?)dup
NC_000021.7:g.(?_14421718)_(43264226_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38217,749,532 - 42,971,047 (+)CLINVAR
GRCh372115,499,847 - 44,391,157CLINVAR
Build 362114,421,718 - 43,264,226CLINVAR
Cytogenetic Map2121p11.2-q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481261
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.