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Variant : CV214328 (NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter)) Homo sapiens

Symbol: CV214328
Name: NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter)
Condition: Joubert syndrome 5 [RCV000201597]|Leber congenital amaurosis 10 [RCV000597035]|Meckel syndrome type 4 [RCV000592112]|Senior-Loken syndrome 6 [RCV000594795]|not provided [RCV000521437]
Clinical Significance: pathogenic
Last Evaluated: 10/13/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing|research
HGVS Name(s): NM_025114.3:c.4522C>T
NG_008417.1:g.62449C>T
NC_000012.12:g.88084768G>A
NC_000012.11:g.88478545G>A
NP_079390.3:p.Arg1508Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,084,768 - 88,084,768CLINVAR
GRCh371288,478,545 - 88,478,545CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10448720
Created: 2015-12-08
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.