Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV463268 (NM_025114.3(CEP290):c.1387G>A (p.Val463Ile)) Homo sapiens

Symbol: CV463268
Name: NM_025114.3(CEP290):c.1387G>A (p.Val463Ile)
Condition: Joubert syndrome [RCV000555543]
Clinical Significance: uncertain significance
Last Evaluated: 04/20/2017
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.1387G>A
NG_008417.1:g.26968G>A
NC_000012.12:g.88120249C>T
NC_000012.11:g.88514026C>T
NP_079390.3:p.Val463Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,120,249 - 88,120,249CLINVAR
GRCh371288,514,026 - 88,514,026CLINVAR
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: 13489801
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.