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Variant : CV334647 (NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile)) Homo sapiens

Symbol: CV334647
Name: NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile)
Condition: Bardet-Biedl syndrome [RCV000277878]|Familial aplasia of the vermis [RCV000363430]|Joubert syndrome [RCV000363430]|Leber congenital amaurosis [RCV000314202]|Meckel-Gruber syndrome [RCV000367744]|Renal dysplasia and retinal aplasia [RCV000313057]
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.68099G>A
NC_000012.12:g.88079118C>T
NC_000012.11:g.88472895C>T
NP_079390.3:p.Val1780Ile
NG_008417.2:g.68099G>A
NM_025114.3:c.5338G>A
NM_025114.3:c.5338G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,079,118 - 88,079,118CLINVAR
GRCh371288,472,895 - 88,472,895CLINVAR
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: 11614570
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.