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Variant : CV268040 (NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly)) Homo sapiens

Symbol: CV268040
Name: NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly)
Condition: Bardet-Biedl syndrome [RCV000267679]|Familial aplasia of the vermis [RCV000320391]|Joubert syndrome [RCV000320391]|Leber congenital amaurosis [RCV000307421]|Meckel-Gruber syndrome [RCV000359078]|Renal dysplasia and retinal aplasia [RCV000359847]|not provided [RCV000725337]|not specified [RCV000403541]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/19/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.6116A>G
NG_008417.1:g.78676A>G
NC_000012.12:g.88068541T>C
NC_000012.11:g.88462318T>C
NP_079390.3:p.Asp2039Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,068,541 - 88,068,541CLINVAR
GRCh371288,462,318 - 88,462,318CLINVAR
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

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11577785
Created: 2017-01-11
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.