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Variant : CV264538 (NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter)) Homo sapiens

Symbol: CV264538
Name: NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter)
Condition: Joubert syndrome [RCV000636991]|Leber congenital amaurosis 10 [RCV000596528]|not provided [RCV000313260]
Clinical Significance: pathogenic
Last Evaluated: 01/11/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.1936C>T
NG_008417.1:g.32681C>T
NC_000012.12:g.88114536G>A
NC_000012.11:g.88508313G>A
NP_079390.3:p.Gln646Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,114,536 - 88,114,536CLINVAR
GRCh371288,508,313 - 88,508,313CLINVAR
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: 11579811
Created: 2017-01-11
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.