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Variant : CV462506 (NM_025114.3(CEP290):c.6358-1G>A) Homo sapiens

Symbol: CV462506
Name: NM_025114.3(CEP290):c.6358-1G>A
Condition: Joubert syndrome [RCV000555880]
Clinical Significance: likely pathogenic
Last Evaluated: 06/19/2017
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.6358-1G>A
NG_008417.1:g.86222G>A
NC_000012.12:g.88060995C>T
NC_000012.11:g.88454772C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,060,995 - 88,060,995CLINVAR
GRCh371288,454,772 - 88,454,772CLINVAR
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: 13490318
Created: 2018-01-09
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.