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Variant : CV140432 (NM_025114.3(CEP290):c.3465G>A (p.Leu1155=)) Homo sapiens

Symbol: CV140432
Name: NM_025114.3(CEP290):c.3465G>A (p.Leu1155=)
Condition: Bardet-Biedl syndrome [RCV000279934]|Familial aplasia of the vermis [RCV000293222]|Joubert syndrome [RCV000293222]|Joubert syndrome [RCV000459124]|Leber congenital amaurosis [RCV000372128]|Meckel-Gruber syndrome [RCV000337209]|Renal dysplasia and retinal aplasia [RCV000375509]|not specified [RCV000124246]
Clinical Significance: benign|uncertain significance
Last Evaluated: 12/18/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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_008417.2:g.56381G>A
NP_079390.3:p.Leu1155=
NG_008417.1:g.56381G>A
NC_000012.12:g.88090836C>T
NC_000012.11:g.88484613C>T
NM_025114.3:c.3465G>A
NM_025114.3:c.3465G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,090,836 - 88,090,836CLINVAR
GRCh371288,484,613 - 88,484,613CLINVAR
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: 8690481
Created: 2014-07-08
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.