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Variant : CV590572 (Single allele) Homo sapiens

Symbol: CV590572
Name: Single allele
Condition: Cerebellar ataxia, nonprogressive, with mental retardation [RCV000735904]
Clinical Significance: uncertain significance
Last Evaluated: 12/17/2018
Review Status: criteria provided, single submitter
Related Genes: AADACL3   AADACL4   C1orf158   DHRS3   MFN2   MIIP   PLOD1   PRAMEF1   PRAMEF11   PRAMEF12   TNFRSF1B   TNFRSF8   VPS13D  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37112,030,001 - 12,898,000CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14350371
Created: 2019-02-12
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.