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Variant : CV254740 (NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val)) Homo sapiens

Symbol: CV254740
Name: NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val)
Condition: Bardet-Biedl syndrome [RCV000297940]|Familial aplasia of the vermis [RCV000338834]|Joubert syndrome [RCV000338834]|Joubert syndrome [RCV000552734]|Leber congenital amaurosis [RCV000342377]|Meckel-Gruber syndrome [RCV000391752]|Renal dysplasia and retinal aplasia [RCV000402056]|not provided [RCV000514061]|not specified [RCV000246283]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 06/30/2017
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5506A>G
NG_008417.1:g.69440A>G
NC_000012.12:g.88077777T>C
NC_000012.11:g.88471554T>C
NP_079390.3:p.Ile1836Val
O15078:p.Ile1836Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,077,777 - 88,077,777CLINVAR
GRCh371288,471,554 - 88,471,554CLINVAR
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: 11546306
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.