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Variant : CV158786 (GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1) Homo sapiens

Symbol: CV158786
Name: GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1
Condition: See cases [RCV000138095]
Clinical Significance: pathogenic
Last Evaluated: 01/16/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS1   ADAMTS5   AP000251.1   AP000289.1   AP000688.1   AP000688.2   APP   ATP5PF   ATP5PO   BACH1   BACH1-IT2   BACH1-IT3   BAGE2   BTG3   BTG3-AS1   C21orf62   C21orf62-AS1   C21orf91   C21orf91-OT1   CBR1   CBR3   CBR3-AS1   CCT8   CFAP298   CFAP298-TCP10L   CHAF1B   CHODL   CHODL-AS1   CLDN14   CLDN17   CLDN8   CLIC6   CRYZL1   CXADR   CYYR1   CYYR1-AS1   D21S2088E   DNAJC28   DONSON   DOP1B   DSCR9   DYRK1A   EVA1C   FAM243A   FAM243B   GABPA   GART   GRIK1   GRIK1-AS1   GRIK1-AS2   HLCS   HSPA13   HUNK   IFNAR1   IFNAR2   IFNGR2   IL10RB   IL10RB-DT   ITSN1   JAM2   KCNE1   KCNE1B   KCNE2   KCNJ6   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   LINC00113   LINC00158   LINC00159   LINC00160   LINC00161   LINC00189   LINC00307   LINC00308   LINC00310   LINC00314   LINC00317   LINC00320   LINC00515   LINC00649   LINC00945   LINC01425   LINC01426   LINC01436   LINC01548   LINC01549   LINC01666   LINC01667   LINC01673   LINC01674   LINC01683   LINC01684   LINC01687   LINC01689   LINC01690   LINC01692   LINC01695   LINC01697   LINC02246   LINC02573   LIPI   LOC101928126   LOC101928269   LOC105377134   LOC105379514   LOC107403075   LOC107403153   LOC108281168   LOC109648314   LOC109648316   LOC109648317   LOC110121331   LOC110121341   LOC110121350   LOC110121368   LOC110121395   LOC110121429   LOC110121481   LOC110121495   LOC111556145   LOC112694732   LOC112694733   LOC112694734   LOC112694735   LOC112694736   LOC112694740   LOC112694741   LOC112694744   LOC114827853   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   LTN1   MAP3K7CL   MIR10396A   MIR10396B   MIR125B2   MIR155   MIR155HG   MIR3118-1   MIR3156-3   MIR3648-1   MIR3648-2   MIR4327   MIR4759   MIR548X   MIR548XHG   MIR6130   MIR6501   MIR6724-1   MIR6724-2   MIR6724-3   MIR6724-4   MIR802   MIR8069-2   MIR99A   MIR99AHG   MIRLET7C   MIS18A   MORC3   MRAP   MRAP-AS1   MRPL39   MRPS6   N6AMT1   NCAM2   NRIP1   OLIG1   OLIG2   PAXBP1   PAXBP1-AS1   PIGP   POTED   RBM11   RCAN1   RIPPLY3   RNA18SN1   RNA18SN2   RNA18SN3   RNA28SN1   RNA28SN2   RNA28SN3   RNA45SN1   RNA45SN2   RNA45SN3   RNA5-8SN1   RNA5-8SN2   RNA5-8SN3   RUNX1   RUNX1   RUNX1-IT1   RWDD2B   SAMSN1   SAMSN1-AS1   SCAF4   SETD4   SETD4-AS1   SIM2   SLC5A3   SMIM11A   SMIM11B   SMIM34A   SMIM34B   SNORA80A   SNORD74B   SOD1   SON   SYNJ1   TCP10L   TIAM1   TMEM50B   TMPRSS15   TPTE   TRG-GCC1-5   TTC3   TTC3-AS1   URB1   URB1-AS1   USP16   USP25   VPS26C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7749532)_(37653653_?)del
NC_000021.8:g.(?_15451032)_(39025955_?)del
NC_000021.7:g.(?_14372903)_(37947825_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38217,749,532 - 37,653,653 (+)CLINVAR
GRCh372115,451,032 - 39,025,955CLINVAR
Build 362114,372,903 - 37,947,825CLINVAR
Cytogenetic Map2121p11.2-q22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485644
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.