Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV511873 (NM_022124.5(CDH23):c.3241C>T (p.Arg1081Ter)) Homo sapiens

Symbol: CV511873
Name: NM_022124.5(CDH23):c.3241C>T (p.Arg1081Ter)
Condition: Inborn genetic diseases [RCV000624916]
Clinical Significance: pathogenic
Last Evaluated: 02/01/2017
Review Status: criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3241C>T
NC_000010.11:g.71712685C>T
NG_008835.1:g.320739C>T
NC_000010.10:g.73472442C>T
NP_071407.4:p.Arg1081Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,712,685 - 71,712,685CLINVAR
GRCh371073,472,442 - 73,472,442CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13533166
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.