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Variant : CV238061 (NM_025114.3(CEP290):c.297+1G>T) Homo sapiens

Symbol: CV238061
Name: NM_025114.3(CEP290):c.297+1G>T
Condition: Retinal dystrophy [RCV000225517]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_025114.3:c.297+1G>T
NG_008417.1:g.8073G>T
NC_000012.12:g.88139144C>A
NC_000012.11:g.88532921C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,139,144 - 88,139,144CLINVAR
GRCh371288,532,921 - 88,532,921CLINVAR
Cytogenetic Map1212q21.32CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11351189
Created: 2016-07-12
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.