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Variant : CV463244 (NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly)) Homo sapiens

Symbol: CV463244
Name: NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly)
Condition: Joubert syndrome [RCV000529924]|Leber congenital amaurosis 10 [RCV000765112]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
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.6392A>G
NG_008417.1:g.86257A>G
NC_000012.12:g.88060960T>C
NC_000012.11:g.88454737T>C
NP_079390.3:p.Glu2131Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,060,960 - 88,060,960CLINVAR
GRCh371288,454,737 - 88,454,737CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: Agenesis of cerebellar vermis; Bardet-Biedl syndrome 14; Cerebellar vermis aplasia; CEREBELLOPARENCHYMAL DISORDER IV; DYSENCEPHALIA SPLANCHNOCYSTICA; Familial aplasia of the vermis; Joubert syndrome 5; juvenile nephronophthisis; Meckel syndrome type 4; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 4; Nephronophthisis; Senior-Loken syndrome 6



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13483552
Created: 2018-01-09
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.