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Variant : CV674555 (GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1) Homo sapiens

Symbol: CV674555
Name: GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1
Condition: not provided [RCV000847671]
Clinical Significance: pathogenic
Last Evaluated: 07/26/2018
Review Status: no assertion criteria provided
Related Genes: ADARB1   AGPAT3   AIRE   CBS   CFAP410   COL18A1   COL6A1   CRYAA   CSTB   DNMT3L   FAM207A   GATD3A   HSF2BP   ICOSLG   ITGB2   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   LINC00163   LINC00315   LINC00334   LRRC3   NDUFV3   PCBP3   PDXK   PFKL   PKNOX1   POFUT2   PTTG1IP   PWP2   RRP1   RRP1B   SIK1   SLC19A1   SUMO3   TRAPPC10   TRPM2   TSPEAR   U2AF1   UBE2G2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372144,310,057 - 47,503,155CLINVAR
Cytogenetic Map2121q22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14977649
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-09-22
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.