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Variant : CV254742 (NM_025114.3(CEP290):c.4806G>A (p.Thr1602=)) Homo sapiens

Symbol: CV254742
Name: NM_025114.3(CEP290):c.4806G>A (p.Thr1602=)
Condition: Bardet-Biedl syndrome [RCV000283968]|Familial aplasia of the vermis [RCV000383188]|Joubert syndrome [RCV000383188]|Leber congenital amaurosis [RCV000328558]|Meckel-Gruber syndrome [RCV000270848]|Renal dysplasia and retinal aplasia [RCV000338967]|not specified [RCV000243671]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.4806G>A
NG_008417.1:g.63364G>A
NC_000012.12:g.88083853C>T
NC_000012.11:g.88477630C>T
NP_079390.3:p.Thr1602=
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,083,853 - 88,083,853CLINVAR
GRCh371288,477,630 - 88,477,630CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Leber's amaurosis; 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: 11544350
Created: 2016-10-11
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.