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Variant : CV131794 (NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln)) Homo sapiens

Symbol: CV131794
Name: NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln)
Condition: AllHighlyPenetrant [RCV000114201]|Bardet-Biedl syndrome [RCV000399104]|Familial aplasia of the vermis [RCV000230169]|Familial aplasia of the vermis [RCV000292636]|Joubert syndrome [RCV000230169]|Joubert syndrome [RCV000292636]|Leber congenital amaurosis [RCV000336982]|Meckel-Gruber syndrome [RCV000352237]|Renal dysplasia and retinal aplasia [RCV000407985]|not provided [RCV000436165]|not specified [RCV000114201]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/18/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5237G>A
Human AssemblyChrPosition (strand)Source
GRCh381288,079,219 - 88,079,219CLINVAR
GRCh371288,472,996 - 88,472,996CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Leber's amaurosis; Meckel-Gruber syndrome; Nephronophthisis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8591147
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


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