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Variant : CV623744 (Single allele) Homo sapiens

Symbol: CV623744
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787437]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: BMT2   DOCK4   FOXP2   GPR85   IFRD1   LSMEM1   PPP1R3A   TMEM168   ZNF277  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh377111,303,881 - 114,362,948CLINVAR
Cytogenetic Map77q31.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698845
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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