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Variant : CV471608 (NC_000023.10:g.(?_17710435)_(17710608_?)del) Homo sapiens

Symbol: CV471608
Name: NC_000023.10:g.(?_17710435)_(17710608_?)del
Condition: Nance-Horan syndrome [RCV000560767]
Clinical Significance: pathogenic
Last Evaluated: 11/08/2018
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_17710435)_(17710608_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,692,315 - 17,692,488CLINVAR
GRCh37X17,710,435 - 17,710,608CLINVAR
Cytogenetic MapXXp22.13CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13497027
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.