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Variant : CV418823 (NM_025114.3(CEP290):c.1910-11T>G) Homo sapiens

Symbol: CV418823
Name: NM_025114.3(CEP290):c.1910-11T>G
Condition: Leber congenital amaurosis [RCV000515679]
Clinical Significance: pathogenic
Last Evaluated: 05/09/2017
Review Status: no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001568)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NC_000012.11:g.88508350A>C
NM_025114.3:c.1910-11T>G
NG_008417.1:g.32644T>G
NC_000012.12:g.88114573A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,114,573 - 88,114,573CLINVAR
GRCh371288,508,350 - 88,508,350CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Leber's amaurosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462233
Created: 2017-12-12
Species: Homo sapiens
Last Modified: 2019-07-16
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.