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Variant : CV326832 (NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly)) Homo sapiens

Symbol: CV326832
Name: NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly)
Condition: Bardet-Biedl syndrome [RCV000293334]|Familial aplasia of the vermis [RCV000329878]|Joubert syndrome [RCV000329878]|Leber congenital amaurosis [RCV000389061]|Meckel-Gruber syndrome [RCV000294668]|Renal dysplasia and retinal aplasia [RCV000373978]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5099A>G
NG_008417.1:g.66908A>G
NC_000012.12:g.88080309T>C
NC_000012.11:g.88474086T>C
NP_079390.3:p.Glu1700Gly
NG_008417.2:g.66908A>G
NM_025114.3:c.5099A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,080,309 - 88,080,309CLINVAR
GRCh371288,474,086 - 88,474,086CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Leber's amaurosis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11650494
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-10-08
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.