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Variant : CV177569 (NM_025114.3(CEP290):c.6522+12dupT) Homo sapiens

Symbol: CV177569
Name: NM_025114.3(CEP290):c.6522+12dupT
Condition: Bardet-Biedl syndrome [RCV000352618]|Familial aplasia of the vermis [RCV000407978]|Joubert syndrome [RCV000407978]|Leber congenital amaurosis [RCV000365840]|Meckel-Gruber syndrome [RCV000407979]|Renal dysplasia and retinal aplasia [RCV000308728]|not specified [RCV000152969]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.6522+12dupT
NG_008417.1:g.86399dup
NG_008417.2:g.86399dup
NC_000012.12:g.88060825dup
NM_025114.3:c.6522+5dup
NC_000012.11:g.88454602dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,060,818 - 88,060,818CLINVAR
GRCh371288,454,595 - 88,454,595CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; 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
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9688608
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-10-08
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.