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Variant : CV177572 (NM_025114.3(CEP290):c.5055G>A (p.Ala1685=)) Homo sapiens

Symbol: CV177572
Name: NM_025114.3(CEP290):c.5055G>A (p.Ala1685=)
Condition: Bardet-Biedl syndrome [RCV000344957]|Familial aplasia of the vermis [RCV000400108]|Joubert syndrome [RCV000400108]|Leber congenital amaurosis [RCV000399776]|Meckel-Gruber syndrome [RCV000346891]|Renal dysplasia and retinal aplasia [RCV000291841]|not specified [RCV000152976]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5055G>A
NG_008417.1:g.66864G>A
NC_000012.12:g.88080353C>T
NC_000012.11:g.88474130C>T
NP_079390.3:p.(=)
NP_079390.3:p.Ala1685=
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,080,353 - 88,080,353CLINVAR
GRCh371288,474,130 - 88,474,130CLINVAR
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: 9692777
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-08-06
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.