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Variant : CV596230 (GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3) Homo sapiens

Symbol: CV596230
Name: GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3
Condition: not provided [RCV000741530]
Clinical Significance: pathogenic
Last Evaluated: 02/01/2011
Review Status: no assertion criteria provided
Related Genes: BACH1   C21orf62   CCT8   CFAP298   CLDN17   CLDN8   DNAJC28   EVA1C   GART   GRIK1   HUNK   IFNAR1   IFNAR2   IFNGR2   IL10RB   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   LTN1   MAP3K7CL   MIS18A   MRAP   N6AMT1   OLIG1   OLIG2   PAXBP1   RWDD2B   SCAF4   SOD1   SYNJ1   TCP10L   TIAM1   TMEM50B   URB1   USP16  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372130,214,872 - 34,896,962CLINVAR
Cytogenetic Map2121q21.3-22.11CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14356904
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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