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Variant : CV623688 (Single allele) Homo sapiens

Symbol: CV623688
Name: Single allele
Condition: Neurodevelopmental disorder [RCV000787381]
Clinical Significance: pathogenic
Last Evaluated: 04/09/2019
Review Status: no assertion criteria provided
Related Genes: AMHR2   ATF7   ATP5MC2   CALCOCO1   CBX5   COPZ1   HNRNPA1   HOTAIR   HOXC10   HOXC11   HOXC12   HOXC13   HOXC13-AS   HOXC4   HOXC5   HOXC6   HOXC8   HOXC9   MAP3K12   MIR148B   MIR196A2   NFE2   NPFF   PCBP2   PRR13   SMUG1   SP1   TARBP2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371253,784,698 - 54,741,363CLINVAR
Cytogenetic Map1212q13.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698774
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-01-14
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.