Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV194758 (NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs)) Homo sapiens

Symbol: CV194758
Name: NM_025114.3(CEP290):c.6604delA (p.Ile2202Leufs)
Condition: Joubert syndrome 5 [RCV000309238]|Leber congenital amaurosis 10 [RCV000178671]|Meckel syndrome type 4 [RCV000597766]|Senior-Loken syndrome 6 [RCV000592912]
Clinical Significance: pathogenic
Last Evaluated: 08/28/2014
Review Status: 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.88059939delT
NC_000012.11:g.88453716delT
NP_079390.3:p.Ile2202Leufs
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,059,939 - 88,059,939CLINVAR
GRCh371288,453,716 - 88,453,716CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000|<1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10048822
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.