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Variant : CV16372 (NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)) Homo sapiens

Symbol: CV16372
Name: NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)
Condition: Joubert syndrome 5 [RCV000001396]|Joubert syndrome [RCV000531295]|Leber congenital amaurosis 10 [RCV000152972]|Leber congenital amaurosis 10 [RCV000515339]|Meckel syndrome type 4 [RCV000592525]|Meckel-Gruber syndrome [RCV000114202]|Senior-Loken syndrome 6 [RCV000594143]|not provided [RCV000086298]
Clinical Significance: pathogenic|not provided
Last Evaluated: 05/08/2018
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: clinical testing|literature only|not provided|research
HGVS Name(s): NM_025114.3:c.5668G>T
NG_008417.1:g.69954G>T
NC_000012.12:g.88077263C>A
NC_000012.11:g.88471040C>A
NP_079390.3:p.Gly1890Ter
NP_079390.3:p.Gly1890*
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,077,263 - 88,077,263CLINVAR
GRCh371288,471,040 - 88,471,040CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Bardet-Biedl syndrome 14; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Joubert syndrome 5; juvenile nephronophthisis; Meckel syndrome type 4; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 4; Nephronophthisis; Senior-Loken syndrome 6
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: 8595377
Created: 2014-05-13
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.