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Variant : CV55091 (NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter)) Homo sapiens

Symbol: CV55091
Name: NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter)
Condition: Retinitis pigmentosa-deafness syndrome [RCV000039160]|Usher syndrome, type 1D [RCV000039160]
Clinical Significance: pathogenic
Last Evaluated: 09/25/2011
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|intron|nonsense|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3628C>T
NG_008835.1:g.338571C>T
NC_000010.11:g.71730517C>T
NC_000010.10:g.73490274C>T
NP_071407.4:p.Gln1210Ter
c.3628C>T
p.Gln1210X
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,730,517 - 71,730,517CLINVAR
GRCh371073,490,274 - 73,490,274CLINVAR
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: 8608788
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.