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Variant : CV177573 (NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs)) Homo sapiens

Symbol: CV177573
Name: NM_025114.3(CEP290):c.1665_1666delAA (p.Lys555Asnfs)
Condition: Joubert syndrome 5 [RCV000288963]|Leber congenital amaurosis 10 [RCV000591146]|Meckel syndrome type 4 [RCV000594632]|Senior-Loken syndrome 6 [RCV000597210]|not provided [RCV000152979]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.88118528_88118529delTT
NC_000012.11:g.88512305_88512306delTT
NP_079390.3:p.Lys555Asnfs
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,118,528 - 88,118,529CLINVAR
GRCh371288,512,305 - 88,512,306CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9692780
Created: 2015-02-10
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.