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Variant : CV106469 (NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly)) Homo sapiens

Symbol: CV106469
Name: NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly)
Condition: AllHighlyPenetrant [RCV000114185]|Bardet-Biedl syndrome [RCV000372667]|Familial aplasia of the vermis [RCV000378429]|Joubert syndrome 5 [RCV000677319]|Joubert syndrome [RCV000378429]|Joubert syndrome [RCV000462329]|Leber congenital amaurosis [RCV000323871]|Meckel-Gruber syndrome [RCV000259217]|Renal dysplasia and retinal aplasia [RCV000284065]|not provided [RCV000086981]|not specified [RCV000114185]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|not provided
Last Evaluated: 05/31/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|curation|literature only|not provided
HGVS Name(s): NG_008417.1:g.32736A>G
NC_000012.12:g.88114481T>C
NC_000012.11:g.88508258T>C
NP_079390.3:p.Asp664Gly
O15078:p.Asp664Gly
NG_008417.2:g.32736A>G
NM_025114.3:c.1991A>G
NM_025114.3:c.1991A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,114,481 - 88,114,481CLINVAR
GRCh371288,508,258 - 88,508,258CLINVAR
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: 8591132
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.