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Variant : CV155395 (GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3) Homo sapiens

Symbol: CV155395
Name: GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3
Condition: See cases [RCV000134972]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   ADARB1   AGPAT3   AIRE   AP001042.3   AP001625.3   B3GALT5   B3GALT5-AS1   BACE2   BRWD1   BRWD1-AS1   BRWD1-AS2   C21orf58   C2CD2   CBS   CFAP410   CHAF1B   CLDN14   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CRYAA   CSTB   DIP2A   DIP2A-IT1   DNMT3L   DNMT3L-AS1   DOP1B   DSCAM   DSCAM-AS1   DSCAM-IT1   DSCR10   DSCR4   DSCR8   DSCR9   DYRK1A   ERG   ERVH48-1   ETS2   FAM207A   FAM3B   FRGCA   FTCD   FTCD-AS1   GATD3A   GET1   GET1-SH3BGR   H2BS1   HLCS   HMGN1   HSF2BP   ICOSLG   IGSF5   ITGB2   ITGB2-AS1   KCNJ15   KCNJ6   KCNJ6-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LCA5L   LINC00111   LINC00112   LINC00114   LINC00163   LINC00205   LINC00313   LINC00315   LINC00316   LINC00319   LINC00322   LINC00323   LINC00334   LINC00479   LINC01423   LINC01424   LINC01547   LINC01668   LINC01671   LINC01678   LINC01679   LINC01694   LINC01700   LINC02575   LOC400867   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR3197   MIR4760   MIR5692B   MIR6070   MIR6508   MIR6814   MIR6815   MORC3   MX1   MX2   NDUFV3   PCBP3   PCBP3-AS1   PCNT   PCP4   PCSEAT   PDE9A   PDE9A-AS1   PDXK   PFKL   PICSAR   PIGP   PKNOX1   PLAC4   POFUT2   PRDM15   PRMT2   PSMG1   PTTG1IP   PWP2   RIPK4   RIPPLY3   RRP1   RRP1B   RSPH1   S100B   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SNORA91   SNORD159   SPATC1L   SUMO3   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TRAPPC10   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   TTC3   TTC3-AS1   U2AF1   UBASH3A   UBE2G2   UMODL1   UMODL1-AS1   VPS26C   WDR4   YBEY   ZBTB21   ZNF295-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_36206067)_(46670405_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382136,206,067 - 46,670,405CLINVAR
GRCh372137,578,365 - 48,090,317CLINVAR
Build 362136,500,235 - 46,914,745CLINVAR
Cytogenetic Map2121q22.12-22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9482545
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.