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Variant : CV265486 (NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val)) Homo sapiens

Symbol: CV265486
Name: NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val)
Condition: Bardet-Biedl syndrome [RCV000260876]|Familial aplasia of the vermis [RCV000319395]|Joubert syndrome [RCV000319395]|Leber congenital amaurosis 10 [RCV000765113]|Leber congenital amaurosis [RCV000261978]|Meckel-Gruber syndrome [RCV000332376]|Renal dysplasia and retinal aplasia [RCV000371771]|not specified [RCV000313250]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
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.75910A>G
NC_000012.12:g.88071307T>C
NC_000012.11:g.88465084T>C
NP_079390.3:p.Ile2000Val
NM_025114.3:c.5998A>G
NM_025114.3:c.5998A>G
NG_008417.2:g.75910A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,071,307 - 88,071,307CLINVAR
GRCh371288,465,084 - 88,465,084CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Bardet-Biedl syndrome 14; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Joubert syndrome 5; Leber's amaurosis; Meckel syndrome type 4; MECKEL-GRUBER SYNDROME, TYPE 4; Senior-Loken syndrome; Senior-Loken syndrome 6
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11577470
Created: 2017-01-11
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.