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Variant : CV318583 (NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu)) Homo sapiens

Symbol: CV318583
Name: NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu)
Condition: Bardet-Biedl syndrome [RCV000278413]|Familial aplasia of the vermis [RCV000322913]|Joubert syndrome [RCV000322913]|Leber congenital amaurosis [RCV000379816]|Meckel-Gruber syndrome [RCV000335864]|Renal dysplasia and retinal aplasia [RCV000265665]|not provided [RCV000514729]
Clinical Significance: uncertain significance
Last Evaluated: 08/01/2017
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.60781C>A
NC_000012.12:g.88086436G>T
NC_000012.11:g.88480213G>T
NP_079390.3:p.Asp1419Glu
NG_008417.2:g.60781C>A
NM_025114.3:c.4257C>A
NM_025114.3:c.4257C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,086,436 - 88,086,436CLINVAR
GRCh371288,480,213 - 88,480,213CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11600943
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.