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

Variant : CV16384 (NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter)) Homo sapiens

Symbol: CV16384
Name: NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter)
Condition: Bardet-Biedl syndrome 14 [RCV000001410]|Joubert syndrome 5 [RCV000201631]
Clinical Significance: pathogenic
Last Evaluated: 02/23/2015
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only|research
HGVS Name(s): NM_025114.3:c.5704G>T
NG_008417.1:g.69990G>T
NC_000012.12:g.88077227C>A
NC_000012.11:g.88471004C>A
NP_079390.3:p.Glu1902Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,077,227 - 88,077,227CLINVAR
GRCh371288,471,004 - 88,471,004CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Age Of Onset: antenatal|infancy|neonatal
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: 8595383
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



NHLBI Logo

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