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Variant : CV55094 (NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter)) Homo sapiens

Symbol: CV55094
Name: NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter)
Condition: Retinitis pigmentosa-deafness syndrome [RCV000039163]|Usher syndrome, type 1D [RCV000039163]|not provided [RCV000482326]
Clinical Significance: pathogenic
Last Evaluated: 06/30/2015
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3706C>T
NG_008835.1:g.338649C>T
NC_000010.11:g.71730595C>T
NC_000010.10:g.73490352C>T
NP_071407.4:p.Arg1236Ter
c.3706C>T
p.Arg1236X
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,730,595 - 71,730,595CLINVAR
GRCh371073,490,352 - 73,490,352CLINVAR
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: 8608791
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
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.