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Variant : CV373481 (NM_025114.3(CEP290):c.1360-4T>G) Homo sapiens

Symbol: CV373481
Name: NM_025114.3(CEP290):c.1360-4T>G
Condition: Joubert syndrome [RCV000474649]|not specified [RCV000441785]
Clinical Significance: likely benign
Last Evaluated: 08/18/2016
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.1360-4T>G
NG_008417.1:g.26937T>G
NC_000012.12:g.88120280A>C
NC_000012.11:g.88514057A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,120,280 - 88,120,280CLINVAR
GRCh371288,514,057 - 88,514,057CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Meckel-Gruber syndrome; Nephronophthisis
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12846510
Created: 2017-04-11
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.