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Variant : CV177013 (NM_025114.3(CEP290):c.226G>A (p.Ala76Thr)) Homo sapiens

Symbol: CV177013
Name: NM_025114.3(CEP290):c.226G>A (p.Ala76Thr)
Condition: Familial aplasia of the vermis [RCV000197854]|Joubert syndrome [RCV000197854]|not provided [RCV000723892]|not specified [RCV000152983]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/20/2017
Review Status: classified by single submitter|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.226G>A
NG_008417.1:g.7698G>A
NC_000012.12:g.88139519C>T
NC_000012.11:g.88533296C>T
NP_079390.3:p.Ala76Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,139,519 - 88,139,519CLINVAR
GRCh371288,533,296 - 88,533,296CLINVAR
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 - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9692784
Created: 2015-02-10
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.