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Variant : CV262748 (Single allele) Homo sapiens

Symbol: CV262748
Name: Single allele
Condition: 16q24.3 microdeletion syndrome [RCV000258283]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2016
Review Status: no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   CBFA2T3   CDH15   CDT1   CTU2   CYBA   GALNS   IL17C   LOC101927817   MVD   PABPN1L   PIEZO1   RNF166   RPL13   SLC22A31   SNAI3   SPG7   TRAPPC2L   ZC3H18   ZNF778  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371688,643,461 - 89,611,494CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11567284
Created: 2016-12-06
Species: Homo sapiens
Last Modified: 2020-10-20
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.