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Variant : CV26069 (NHS, 4.8-KB DEL) Homo sapiens

Symbol: CV26069
Name: NHS, 4.8-KB DEL
Condition: Cataract 40 [RCV000011777]
Clinical Significance: pathogenic
Last Evaluated: 07/23/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: NHS  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: 4.8-kb del
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: CATARACT 40 WITH OR WITHOUT MICROCORNEA; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CATARACT, CONGENITAL, WITH MICROCORNEA AND MICROPHTHALMIA; Cataract, congenital, X-linked; MICROPHTHALMIA AND CATARACT 3; Microphthalmia, isolated, with cataract 3; Zonular cataract and nystagmus
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8562114
Created: 2014-05-13
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.