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Variant : CV162827 (GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1) Homo sapiens

Symbol: CV162827
Name: GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1
Condition: See cases [RCV000141575]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATP5PO   BACH1   C21orf62   CCT8   CFAP298   CLDN17   CLDN8   CLIC6   CRYZL1   DNAJC28   DONSON   EVA1C   GART   GRIK1   HUNK   IFNAR1   IFNAR2   IFNGR2   IL10RB   ITSN1   KCNE1   KCNE2   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   MRPS6   N6AMT1   OLIG1   OLIG2   PAXBP1   RCAN1   RWDD2B   SCAF4   SLC5A3   SMIM11A   SOD1   SON   SYNJ1   TCP10L   TIAM1   TMEM50B   URB1   USP16  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_29880468)_(36062331_?)del
Human AssemblyChrPosition (strand)Source
GRCh372129,880,468 - 36,062,331CLINVAR
Build 362128,802,339 - 34,984,201CLINVAR
Cytogenetic Map2121q21.3-22.12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489100
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-24
Status: ACTIVE


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