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Variant : CV131784 (NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp)) Homo sapiens

Symbol: CV131784
Name: NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp)
Condition: AllHighlyPenetrant [RCV000114190]|Bardet-Biedl syndrome [RCV000386730]|Familial aplasia of the vermis [RCV000289399]|Joubert syndrome [RCV000289399]|Joubert syndrome [RCV000476789]|Leber congenital amaurosis [RCV000325683]|Meckel-Gruber syndrome [RCV000295173]|Renal dysplasia and retinal aplasia [RCV000389552]|not specified [RCV000114190]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 06/18/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.40442T>G
NC_000012.12:g.88106775A>C
NC_000012.11:g.88500552A>C
NP_079390.3:p.Leu906Trp
O15078:p.Leu906Trp
NG_008417.2:g.40442T>G
NM_025114.3:c.2717T>G
NM_025114.3:c.2717T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,106,775 - 88,106,775CLINVAR
GRCh371288,500,552 - 88,500,552CLINVAR
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: 8591136
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.