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Variant : CV375454 (NM_025114.3(CEP290):c.1729C>T (p.Leu577=)) Homo sapiens

Symbol: CV375454
Name: NM_025114.3(CEP290):c.1729C>T (p.Leu577=)
Condition: Joubert syndrome [RCV000637008]|not provided [RCV000733432]|not specified [RCV000445295]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/11/2018
Review Status: criteria provided, single submitter
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.1729C>T
NG_008417.1:g.30089C>T
NC_000012.12:g.88117128G>A
NC_000012.11:g.88510905G>A
NP_079390.3:p.Leu577=
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,117,128 - 88,117,128CLINVAR
GRCh371288,510,905 - 88,510,905CLINVAR
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: 12848434
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-07-16
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.