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Variant : CV19965 (NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp)) Homo sapiens

Symbol: CV19965
Name: NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp)
Condition: AllHighlyPenetrant [RCV000039312]|USHER SYNDROME, TYPE ID/F, DIGENIC [RCV000005209]|Usher syndrome, type 1 [RCV000222140]|not specified [RCV000039312]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 05/19/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): NM_022124.5:c.9565C>T
NG_008835.1:g.420876C>T
NC_000010.11:g.71812822C>T
NC_000010.10:g.73572579C>T
NP_071407.4:p.Arg3189Trp
c.9565C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,812,822 - 71,812,822CLINVAR
GRCh371073,572,579 - 73,572,579CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: infancy|neonatal
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558367
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.