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Variant : CV174699 (NM_022124.5:c.(?_3716)_(4146_?)del) Homo sapiens

Symbol: CV174699
Name: NM_022124.5:c.(?_3716)_(4146_?)del
Condition: Usher syndrome, type 1D [RCV000156137]
Clinical Significance: pathogenic
Last Evaluated: 09/25/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_71731987)_(71734281_?)del
NC_000010.10:g.(?_73491744)_(73494038_?)del
p.?
NM_022124.5:c.(?_3716)_(4146_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,731,987 - 71,734,281CLINVAR
GRCh371073,491,744 - 73,494,038CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: USHER SYNDROME, TYPE ID
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9690458
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-07-09
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.