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Variant : CV131783 (NM_025114.3(CEP290):c.251-10A>T) Homo sapiens

Symbol: CV131783
Name: NM_025114.3(CEP290):c.251-10A>T
Condition: AllHighlyPenetrant [RCV000114188]|Bardet-Biedl syndrome [RCV000383789]|Familial aplasia of the vermis [RCV000234281]|Familial aplasia of the vermis [RCV000322239]|Joubert syndrome [RCV000234281]|Joubert syndrome [RCV000322239]|Leber congenital amaurosis [RCV000264694]|Meckel-Gruber syndrome [RCV000272783]|Renal dysplasia and retinal aplasia [RCV000361740]|not provided [RCV000712033]|not specified [RCV000114188]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated: 02/09/2018
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.8016A>T
NC_000012.12:g.88139201T>A
NC_000012.11:g.88532978T>A
NG_021187.1:g.1906T>A
NG_008417.2:g.8016A>T
NM_025114.3:c.251-10A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,139,201 - 88,139,201CLINVAR
GRCh371288,532,978 - 88,532,978CLINVAR
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; Leber's amaurosis; Meckel-Gruber syndrome; Nephronophthisis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8591134
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.