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Variant : CV623706 (Single allele) Homo sapiens

Symbol: CV623706
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787399]
Clinical Significance: likely pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: AKT3   CEP170   CHML   CHRM3   EXO1   FH   FMN2   GREM2   KMO   MAP1LC3C   OPN3   PLD5   RGS7   SDCCAG8   WDR64  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371238,817,623 - 244,138,230CLINVAR
Cytogenetic Map11q43-44CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698791
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-09-22
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.