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Variant : CV332990 (NM_025114.3(CEP290):c.2616G>A (p.Ser872=)) Homo sapiens

Symbol: CV332990
Name: NM_025114.3(CEP290):c.2616G>A (p.Ser872=)
Condition: Bardet-Biedl syndrome [RCV000399710]|Familial aplasia of the vermis [RCV000337086]|Joubert syndrome [RCV000337086]|Leber congenital amaurosis [RCV000350122]|Meckel-Gruber syndrome [RCV000394763]|Renal dysplasia and retinal aplasia [RCV000282243]|not specified [RCV000605884]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 02/02/2018
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.2616G>A
NG_008417.1:g.40341G>A
NC_000012.12:g.88106876C>T
NC_000012.11:g.88500653C>T
NP_079390.3:p.Ser872=
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,106,876 - 88,106,876CLINVAR
GRCh371288,500,653 - 88,500,653CLINVAR
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

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11621551
Created: 2017-01-11
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.