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Variant : CV214340 (NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs)) Homo sapiens

Symbol: CV214340
Name: NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs)
Condition: Joubert syndrome 5 [RCV000201609]
Clinical Significance: pathogenic
Last Evaluated: 02/23/2015
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_025114.3:c.164_167delCTCA
NC_000012.12:g.88140969_88140972delTGAG
NC_000012.11:g.88534746_88534749delTGAG
NP_079390.3:p.Thr55Serfs
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,140,969 - 88,140,972CLINVAR
GRCh371288,534,746 - 88,534,749CLINVAR
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: 10448724
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.