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Variant : CV623746 (Single allele) Homo sapiens

Symbol: CV623746
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787439]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: ADAM29   AGA   ASB5   CEP44   FBXO8   GALNT7   GALNTL6   GLRA3   GPM6A   HAND2   HMGB2   HPGD   NEIL3   SAP30   SCRG1   SPATA4   SPCS3   VEGFC   WDR17  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh374171,316,973 - 180,632,505CLINVAR
Cytogenetic Map44q33-34.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14698849
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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