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Variant : CV16380 (CEP290, EX3, T-A, +2) Homo sapiens

Symbol: CV16380
Name: CEP290, EX3, T-A, +2
Condition: Meckel syndrome type 4 [RCV000001406]
Clinical Significance: pathogenic
Last Evaluated: 11/28/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map1212q21.3CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: antenatal|neonatal/infancy
Prevalence: 1-9 / 100 000|<1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8556131
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
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.