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Variant : CV527405 (NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys)) Homo sapiens

Symbol: CV527405
Name: NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys)
Condition: Joubert syndrome [RCV000637000]|not provided [RCV000733949]
Clinical Significance: uncertain significance
Last Evaluated: 07/03/2018
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.5125C>A
NG_008417.1:g.66934C>A
NC_000012.12:g.88080283G>T
NC_000012.11:g.88474060G>T
NP_079390.3:p.Gln1709Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,080,283 - 88,080,283CLINVAR
GRCh371288,474,060 - 88,474,060CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; 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: 13621257
Created: 2018-06-12
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.