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Variant : CV214337 (NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs)) Homo sapiens

Symbol: CV214337
Name: NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs)
Condition: Joubert syndrome 5 [RCV000201724]
Clinical Significance: pathogenic
Last Evaluated: 02/23/2015
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_025114.3:c.1666dupA
NC_000012.12:g.88118528dupT
NC_000012.11:g.88512305dupT
NP_079390.3:p.Ile556Asnfs
NG_008417.1:g.28689dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,118,528 - 88,118,528CLINVAR
GRCh371288,512,305 - 88,512,305CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Age Of Onset: infancy|neonatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10448779
Created: 2015-12-08
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.