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Variant : CV131801 (NM_025114.3(CEP290):c.829G>C (p.Glu277Gln)) Homo sapiens

Symbol: CV131801
Name: NM_025114.3(CEP290):c.829G>C (p.Glu277Gln)
Condition: AllHighlyPenetrant [RCV000114209]|Joubert syndrome [RCV000463938]|not provided [RCV000132682]|not specified [RCV000114209]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 01/19/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_025114.3:c.829G>C
NG_008417.1:g.17500G>C
NC_000012.12:g.88129717C>G
NC_000012.11:g.88523494C>G
NP_079390.3:p.Glu277Gln
O15078:p.Glu277Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,129,717 - 88,129,717CLINVAR
GRCh371288,523,494 - 88,523,494CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; AllHighlyPenetrant; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; juvenile nephronophthisis; Meckel-Gruber syndrome; Nephronophthisis
Age Of Onset: antenatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8591154
Created: 2014-05-13
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.