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Variant : CV55206 (NM_022124.5(CDH23):c.7921G>C (p.Asp2641His)) Homo sapiens

Symbol: CV55206
Name: NM_022124.5(CDH23):c.7921G>C (p.Asp2641His)
Condition: Retinitis pigmentosa-deafness syndrome [RCV000039277]|Usher syndrome, type 1D [RCV000039277]|Usher syndrome, type 1D [RCV000150323]
Clinical Significance: likely pathogenic
Last Evaluated: 05/07/2012
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.7921G>C
NG_008835.1:g.413908G>C
NC_000010.11:g.71805854G>C
NC_000010.10:g.73565611G>C
NP_071407.4:p.Asp2641His
c.7921G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,805,854 - 71,805,854CLINVAR
GRCh371073,565,611 - 73,565,611CLINVAR
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: 8608903
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.