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Variant : CV820767 (NC_000016.10:g.(?_1485939)_(1511150_?)del) Homo sapiens

Symbol: CV820767
Name: NC_000016.10:g.(?_1485939)_(1511150_?)del
Condition: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia [RCV001033281]
Clinical Significance: uncertain significance
Last Evaluated: 11/26/2019
Review Status: criteria provided, single submitter
Related Genes: IFT140   PTX4   TELO2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_1485939)_(1511150_?)del
NC_000016.9:g.(?_1535940)_(1561151_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh37161,535,940 - 1,561,151CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Trait Synonyms: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26908850
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-10-15
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.