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Variant : CV318604 (NM_025114.3(CEP290):c.442-12_442-11dupTT) Homo sapiens

Symbol: CV318604
Name: NM_025114.3(CEP290):c.442-12_442-11dupTT
Condition: Bardet-Biedl syndrome [RCV000366809]|Familial aplasia of the vermis [RCV000314453]|Joubert syndrome [RCV000314453]|Leber congenital amaurosis [RCV000396892]|Meckel-Gruber syndrome [RCV000345263]|Renal dysplasia and retinal aplasia [RCV000288008]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: duplication (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.442-12_442-11dupTT
NC_000012.12:g.88131229_88131230dupAA
NC_000012.11:g.88525006_88525007dupAA
NG_008417.1:g.15987_15988dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,131,229 - 88,131,230CLINVAR
GRCh371288,525,006 - 88,525,007CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Leber's amaurosis; Senior-Loken syndrome
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635557
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-16
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.