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Variant : CV55051 (NM_022124.5(CDH23):c.2012delT (p.Phe671Serfs)) Homo sapiens

Symbol: CV55051
Name: NM_022124.5(CDH23):c.2012delT (p.Phe671Serfs)
Condition: Retinitis pigmentosa-deafness syndrome [RCV000039119]|Usher syndrome, type 1D [RCV000039119]|Usher syndrome, type 1D [RCV000150279]
Clinical Significance: pathogenic
Last Evaluated: 10/06/2010
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.2012delT
NC_000010.11:g.71687672delT
NC_000010.10:g.73447429delT
NP_071407.4:p.Phe671Serfs
c.2012delT
p.Phe671fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,687,672 - 71,687,672CLINVAR
GRCh371073,447,429 - 73,447,429CLINVAR
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: 8608748
Created: 2014-05-13
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.