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Variant : CV575279 (NC_000023.10:g.(?_17393861)_(17753592_?)del) Homo sapiens

Symbol: CV575279
Name: NC_000023.10:g.(?_17393861)_(17753592_?)del
Condition: Nance-Horan syndrome [RCV000708273]
Clinical Significance: pathogenic
Last Evaluated: 02/23/2018
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_17393861)_(17753592_?)del
Human AssemblyChrPosition (strand)Source
GRCh37X17,393,861 - 17,753,592CLINVAR
Cytogenetic MapXXp22.13CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13819331
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.