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Variant : CV262749 (Single allele) Homo sapiens

Symbol: CV262749
Name: Single allele
Condition: 16q24.3 microdeletion syndrome [RCV000258380]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2016
Review Status: no assertion criteria provided
Related Genes: AC092720.3   ACSF3   ANKRD11   APRT   BANP   C16orf95   CA5A   CBFA2T3   CDH15   CDT1   CTU2   CYBA   FBXO31   GALNS   IL17C   JPH3   KLHDC4   MAP1LC3B   MVD   PABPN1L   PIEZO1   RNF166   SLC22A31   SLC7A5   SNAI3   TRAPPC2L   ZC3H18   ZCCHC14   ZFPM1   ZNF469   ZNF778  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371687,340,135 - 89,335,428CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR

Disease Annotations

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11567289
Created: 2016-12-06
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.