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Variant : CV265487 (NM_025114.3(CEP290):c.1092T>G (p.Ile364Met)) Homo sapiens

Symbol: CV265487
Name: NM_025114.3(CEP290):c.1092T>G (p.Ile364Met)
Condition: Bardet-Biedl syndrome [RCV000342452]|CEP290-Related Disorders [RCV000714822]|Familial aplasia of the vermis [RCV000396707]|Joubert syndrome [RCV000396707]|Joubert syndrome [RCV000637003]|Leber congenital amaurosis [RCV000280320]|Meckel-Gruber syndrome [RCV000374721]|Renal dysplasia and retinal aplasia [RCV000320212]|not specified [RCV000354111]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 08/07/2018
Review Status: 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.1092T>G
NG_008417.1:g.21874T>G
NC_000012.12:g.88125343A>C
NC_000012.11:g.88519120A>C
NP_079390.3:p.Ile364Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,125,343 - 88,125,343CLINVAR
GRCh371288,519,120 - 88,519,120CLINVAR
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



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11578396
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.