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Variant : CV318602 (NM_025114.3(CEP290):c.1549T>C (p.Leu517=)) Homo sapiens

Symbol: CV318602
Name: NM_025114.3(CEP290):c.1549T>C (p.Leu517=)
Condition: Bardet-Biedl syndrome [RCV000299546]|Familial aplasia of the vermis [RCV000398619]|Joubert syndrome [RCV000398619]|Leber congenital amaurosis [RCV000335728]|Meckel-Gruber syndrome [RCV000305920]|Renal dysplasia and retinal aplasia [RCV000360538]|not provided [RCV000728042]
Clinical Significance: uncertain significance
Last Evaluated: 07/21/2017
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.28500T>C
NC_000012.12:g.88118717A>G
NC_000012.11:g.88512494A>G
NP_079390.3:p.Leu517=
NG_008417.2:g.28500T>C
NM_025114.3:c.1549T>C
NM_025114.3:c.1549T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,118,717 - 88,118,717CLINVAR
GRCh371288,512,494 - 88,512,494CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; 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

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11603376
Created: 2017-01-11
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.