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Variant : CV105749 (NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs)) Homo sapiens

Symbol: CV105749
Name: NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs)
Condition: Retinitis pigmentosa [RCV000678537]|not provided [RCV000086297]
Clinical Significance: pathogenic|not provided
Last Evaluated: 09/01/2016
Review Status: no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: CEP290  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_025114.3:c.5649dupA
NC_000012.12:g.88077282dupT
NC_000012.11:g.88471059dupT
NP_079390.3:p.Leu1884Thrfs
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,077,282 - 88,077,282CLINVAR
GRCh371288,471,059 - 88,471,059CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Retinotapetal degeneration; Tapetoretinal degeneration



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8646333
Created: 2014-05-13
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.