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Variant : CV262751 (Single allele) Homo sapiens

Symbol: CV262751
Name: Single allele
Condition: 16q24.3 microdeletion syndrome [RCV000258300]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2016
Review Status: no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   CBFA2T3   CDH15   CDT1   CTU2   GALNS   LOC101927817   PABPN1L   PIEZO1   RNF166   SLC22A31   SPG7   TRAPPC2L   ZNF778  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371688,755,312 - 89,584,412CLINVAR
Cytogenetic Map1616q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11567285
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.