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Variant : CV215459 (NM_025114.3(CEP290):c.4754A>G (p.His1585Arg)) Homo sapiens

Symbol: CV215459
Name: NM_025114.3(CEP290):c.4754A>G (p.His1585Arg)
Condition: Bardet-Biedl syndrome [RCV000335594]|Familial aplasia of the vermis [RCV000300690]|Joubert syndrome [RCV000300690]|Joubert syndrome [RCV000815427]|Leber congenital amaurosis [RCV000285366]|Meckel-Gruber syndrome [RCV000379773]|Renal dysplasia and retinal aplasia [RCV000401171]|not specified [RCV000203104]
Clinical Significance: uncertain significance
Last Evaluated: 09/23/2018
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.63312A>G
NC_000012.12:g.88083905T>C
NC_000012.11:g.88477682T>C
NP_079390.3:p.His1585Arg
NG_008417.2:g.63312A>G
NM_025114.3:c.4754A>G
NM_025114.3:c.4754A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,083,905 - 88,083,905CLINVAR
GRCh371288,477,682 - 88,477,682CLINVAR
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: 10449912
Created: 2016-01-12
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.