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Variant : CV193150 (NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys)) Homo sapiens

Symbol: CV193150
Name: NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys)
Condition: Joubert syndrome 5 [RCV000660467]|not provided [RCV000176690]|not specified [RCV000192651]
Clinical Significance: conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/05/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.2980G>A
NG_008417.1:g.44368G>A
NC_000012.12:g.88102849C>T
NC_000012.11:g.88496626C>T
NP_079390.3:p.Glu994Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,102,849 - 88,102,849CLINVAR
GRCh371288,496,626 - 88,496,626CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10051263
Created: 2015-07-14
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.