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Variant : CV247972 (GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1) Homo sapiens

Symbol: CV247972
Name: GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1
Condition: See cases [RCV000239795]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ASB13   ATP5F1C   CALML3   CALML3-AS1   CALML5   FBH1   GATA3   GDI2   IL15RA   IL2RA   ITIH2   ITIH5   KIN   KLF6   NET1   PFKFB3   PFKP   PITRM1   PRKCQ   RBM17   SFMBT2   TAF3   TASOR2   TUBAL3   UCN3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37102,593,113 - 8,484,746CLINVAR
Cytogenetic Map1010p15.3-14CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541314
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-11-17
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.