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Variant : CV152874 (NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly)) Homo sapiens

Symbol: CV152874
Name: NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly)
Condition: Leber congenital amaurosis 10 [RCV000490488]|not provided [RCV000132681]|not specified [RCV000193732]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 11/02/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|not provided|reference population
HGVS Name(s): NM_025114.3:c.6787A>G
NG_008417.1:g.88338A>G
NC_000012.12:g.88058879T>C
NC_000012.11:g.88452656T>C
NP_079390.3:p.Ser2263Gly
O15078:p.Ser2263Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,058,879 - 88,058,879CLINVAR
GRCh371288,452,656 - 88,452,656CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: infancy
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9480342
Created: 2014-09-09
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.