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Variant : CV106471 (NM_025114.3(CEP290):c.2827A>G (p.Ile943Val)) Homo sapiens

Symbol: CV106471
Name: NM_025114.3(CEP290):c.2827A>G (p.Ile943Val)
Condition: Joubert syndrome [RCV000460692]|not provided [RCV000086983]|not specified [RCV000212404]
Clinical Significance: benign|not provided
Last Evaluated: 10/21/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_025114.3:c.2827A>G
NG_008417.1:g.44215A>G
NC_000012.12:g.88103002T>C
NC_000012.11:g.88496779T>C
NP_079390.3:p.Ile943Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,103,002 - 88,103,002CLINVAR
GRCh371288,496,779 - 88,496,779CLINVAR
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: 8646951
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.