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Variant : CV266496 (NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter)) Homo sapiens

Symbol: CV266496
Name: NM_025114.3(CEP290):c.5803G>T (p.Glu1935Ter)
Condition: Joubert syndrome 5 [RCV000400719]|Leber congenital amaurosis 10 [RCV000593831]|Meckel syndrome type 4 [RCV000350201]|Senior-Loken syndrome 6 [RCV000595909]
Clinical Significance: pathogenic
Last Evaluated: 08/11/2015
Review Status: 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.5803G>T
NG_008417.1:g.75384G>T
NC_000012.12:g.88071833C>A
NC_000012.11:g.88465610C>A
NP_079390.3:p.Glu1935Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,071,833 - 88,071,833CLINVAR
GRCh371288,465,610 - 88,465,610CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: antenatal|infancy
Prevalence: 1-9 / 100 000|<1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633590
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.