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Variant : CV429461 (NM_025114.3(CEP290):c.814G>A (p.Asp272Asn)) Homo sapiens

Symbol: CV429461
Name: NM_025114.3(CEP290):c.814G>A (p.Asp272Asn)
Condition: Joubert syndrome [RCV000701975]|not specified [RCV000504551]
Clinical Significance: uncertain significance
Last Evaluated: 02/27/2018
Review Status: 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.814G>A
NG_008417.1:g.17485G>A
NC_000012.12:g.88129732C>T
NC_000012.11:g.88523509C>T
NP_079390.3:p.Asp272Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,129,732 - 88,129,732CLINVAR
GRCh371288,523,509 - 88,523,509CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13217068
Created: 2017-09-12
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.