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Variant : CV326850 (NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala)) Homo sapiens

Symbol: CV326850
Name: NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala)
Condition: Bardet-Biedl syndrome [RCV000371328]|Familial aplasia of the vermis [RCV000365084]|Joubert syndrome [RCV000365084]|Leber congenital amaurosis [RCV000400672]|Meckel-Gruber syndrome [RCV000307295]|Renal dysplasia and retinal aplasia [RCV000310425]
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): NG_008417.1:g.35480A>C
NC_000012.12:g.88111737T>G
NC_000012.11:g.88505514T>G
NP_079390.3:p.Glu725Ala
NG_008417.2:g.35480A>C
NM_025114.3:c.2174A>C
NM_025114.3:c.2174A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,111,737 - 88,111,737CLINVAR
GRCh371288,505,514 - 88,505,514CLINVAR
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: 11623296
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.