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Variant : CV228232 (NM_022124.5(CDH23):c.9127C>T (p.Arg3043Trp)) Homo sapiens

Symbol: CV228232
Name: NM_022124.5(CDH23):c.9127C>T (p.Arg3043Trp)
Condition: Usher syndrome, type 1 [RCV000214890]
Clinical Significance: likely pathogenic
Last Evaluated: 05/19/2016
Review Status: no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense variant
Evidence: literature only
HGVS Name(s): NM_001171935.1:c.-928C>T
NM_022124.5:c.9127C>T
NG_008835.1:g.419418C>T
NC_000010.11:g.71811364C>T
NC_000010.10:g.73571121C>T
NP_071407.4:p.Arg3043Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,811,364 - 71,811,364CLINVAR
GRCh371073,571,121 - 73,571,121CLINVAR
Cytogenetic Map1010q22.1CLINVAR
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: 11089503
Created: 2016-06-07
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.