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

Variant : CV326807 (NM_025114.3(CEP290):c.7209+11_7209+14delATTA) Homo sapiens

Symbol: CV326807
Name: NM_025114.3(CEP290):c.7209+11_7209+14delATTA
Condition: Bardet-Biedl syndrome [RCV000363192]|Familial aplasia of the vermis [RCV000329341]|Joubert syndrome [RCV000329341]|Leber congenital amaurosis [RCV000311884]|Meckel-Gruber syndrome [RCV000271893]|Renal dysplasia and retinal aplasia [RCV000368871]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.7209+11_7209+14delATTA
NG_008417.1:g.96874_96877del
NG_008417.2:g.96874_96877del
NC_000012.12:g.88050343_88050346del
NC_000012.11:g.88444120_88444123del
NM_025114.3:c.7209+11_7209+14del
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,050,340 - 88,050,343CLINVAR
GRCh371288,444,117 - 88,444,120CLINVAR
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: 11618207
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

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