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Variant : CV248423 (GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1) Homo sapiens

Symbol: CV248423
Name: GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1
Condition: See cases [RCV000240216]
Clinical Significance: uncertain significance
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AGPAT3   AIRE   CBS   CFAP410   CRYAA   CSTB   DNMT3L   GATD3A   HSF2BP   ICOSLG   LRRC3   NDUFV3   PDXK   PFKL   PKNOX1   PWP2   RRP1   RRP1B   SIK1   TRAPPC10   TRPM2   TSPEAR   U2AF1   WDR4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372144,264,486 - 45,945,979CLINVAR
Cytogenetic Map2121q22.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541652
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-09-08
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.