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Variant : CV177574 (NM_025114.3(CEP290):c.853-12_853-11insG) Homo sapiens

Symbol: CV177574
Name: NM_025114.3(CEP290):c.853-12_853-11insG
Condition: Bardet-Biedl syndrome [RCV000371097]|Familial aplasia of the vermis [RCV000274196]|Joubert syndrome [RCV000274196]|Leber congenital amaurosis [RCV000398401]|Meckel-Gruber syndrome [RCV000314052]|Renal dysplasia and retinal aplasia [RCV000331585]|not specified [RCV000152981]
Clinical Significance: benign|uncertain significance
Last Evaluated: 03/18/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_008417.1:g.18170_18171insG
NC_000012.12:g.88129046_88129047insC
NC_000012.11:g.88522823_88522824insC
NG_008417.2:g.18170_18171insG
NM_025114.3:c.853-12_853-11insG
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,129,046 - 88,129,047CLINVAR
GRCh371288,522,823 - 88,522,824CLINVAR
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: 9692782
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.