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Variant : CV332983 (NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys)) Homo sapiens

Symbol: CV332983
Name: NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys)
Condition: Bardet-Biedl syndrome [RCV000289191]|Familial aplasia of the vermis [RCV000381363]|Joubert syndrome [RCV000381363]|Joubert syndrome [RCV000557002]|Leber congenital amaurosis [RCV000276434]|Meckel-Gruber syndrome [RCV000327895]|Renal dysplasia and retinal aplasia [RCV000333827]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 09/25/2017
Review Status: 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.3790C>T
NG_008417.1:g.57946C>T
NC_000012.12:g.88089271G>A
NC_000012.11:g.88483048G>A
NP_079390.3:p.Arg1264Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,089,271 - 88,089,271CLINVAR
GRCh371288,483,048 - 88,483,048CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Leber's amaurosis; Meckel-Gruber syndrome; Nephronophthisis; 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: 11614388
Created: 2017-01-11
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.