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Variant : CV572096 (NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln)) Homo sapiens

Symbol: CV572096
Name: NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln)
Condition: Joubert syndrome [RCV000702124]
Clinical Significance: uncertain significance
Last Evaluated: 06/21/2018
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.1390G>C
NG_008417.1:g.26971G>C
NC_000012.12:g.88120246C>G
NC_000012.11:g.88514023C>G
NP_079390.3:p.Glu464Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,120,246 - 88,120,246CLINVAR
GRCh371288,514,023 - 88,514,023CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Meckel-Gruber syndrome; Nephronophthisis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13809418
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-07-09
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.