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Variant : CV55194 (NM_022124.5(CDH23):c.7362G>A (p.Thr2454=)) Homo sapiens

Symbol: CV55194
Name: NM_022124.5(CDH23):c.7362G>A (p.Thr2454=)
Condition: Retinitis pigmentosa-deafness syndrome [RCV000039265]|Usher syndrome, type 1D [RCV000039265]|not specified [RCV000483242]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 02/08/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.7362G>A
NG_008835.1:g.407683G>A
NC_000010.11:g.71799629G>A
NC_000010.10:g.73559386G>A
NP_071407.4:p.Thr2454=
c.7362G>A
p.Thr2454Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,799,629 - 71,799,629CLINVAR
GRCh371073,559,386 - 73,559,386CLINVAR
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: 8608891
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.