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Variant : CV194245 (NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys)) Homo sapiens

Symbol: CV194245
Name: NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys)
Condition: Bardet-Biedl syndrome [RCV000317172]|Familial aplasia of the vermis [RCV000379723]|Joubert syndrome [RCV000379723]|Leber congenital amaurosis 10 [RCV000763862]|Leber congenital amaurosis [RCV000285304]|Meckel-Gruber syndrome [RCV000371843]|Renal dysplasia and retinal aplasia [RCV000281982]|not provided [RCV000178009]|not specified [RCV000259100]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5284C>T
NG_008417.1:g.68045C>T
NC_000012.12:g.88079172G>A
NC_000012.11:g.88472949G>A
NP_079390.3:p.Arg1762Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,079,172 - 88,079,172CLINVAR
GRCh371288,472,949 - 88,472,949CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Bardet-Biedl syndrome 14; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Joubert syndrome 5; Leber's amaurosis; Meckel syndrome type 4; MECKEL-GRUBER SYNDROME, TYPE 4; Senior-Loken syndrome; Senior-Loken syndrome 6
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10052043
Created: 2015-07-14
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.