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Variant : CV194246 (NM_025114.3(CEP290):c.5322C>T (p.Leu1774=)) Homo sapiens

Symbol: CV194246
Name: NM_025114.3(CEP290):c.5322C>T (p.Leu1774=)
Condition: Bardet-Biedl syndrome [RCV000268862]|Familial aplasia of the vermis [RCV000320490]|Joubert syndrome [RCV000320490]|Joubert syndrome [RCV000637010]|Leber congenital amaurosis [RCV000328615]|Meckel-Gruber syndrome [RCV000265423]|Renal dysplasia and retinal aplasia [RCV000364677]|not provided [RCV000712032]|not specified [RCV000178010]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 03/22/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.5322C>T
NG_008417.1:g.68083C>T
NC_000012.12:g.88079134G>A
NC_000012.11:g.88472911G>A
NP_079390.3:p.Leu1774=
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,079,134 - 88,079,134CLINVAR
GRCh371288,472,911 - 88,472,911CLINVAR
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: 10048675
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-07-16
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.