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Variant : CV19954 (NM_022124.5(CDH23):c.4488G>C (p.Gln1496His)) Homo sapiens

Symbol: CV19954
Name: NM_022124.5(CDH23):c.4488G>C (p.Gln1496His)
Condition: Usher syndrome, type 1D [RCV000005197]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: literature only
HGVS Name(s): NM_022124.5:c.4488G>C
NG_008835.1:g.347826G>C
NC_000010.11:g.71739772G>C
NC_000010.10:g.73499529G>C
NP_071407.4:p.Gln1496His
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,739,772 - 71,739,772CLINVAR
GRCh371073,499,529 - 73,499,529CLINVAR
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: 8558356
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.