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Variant : CV194205 (NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter)) Homo sapiens

Symbol: CV194205
Name: NM_025114.3(CEP290):c.5182G>T (p.Glu1728Ter)
Condition: Joubert syndrome 5 [RCV000177953]|Leber congenital amaurosis 10 [RCV000596711]|Meckel syndrome type 4 [RCV000592767]|Senior-Loken syndrome 6 [RCV000594136]|not provided [RCV000523279]
Clinical Significance: pathogenic
Last Evaluated: 03/02/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.5182G>T
NG_008417.1:g.66991G>T
NC_000012.12:g.88080226C>A
NC_000012.11:g.88474003C>A
NP_079390.3:p.Glu1728Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,080,226 - 88,080,226CLINVAR
GRCh371288,474,003 - 88,474,003CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10048661
Created: 2015-07-14
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.