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

Variant : CV55126 (NM_022124.5(CDH23):c.5026G>A (p.Ala1676Thr)) Homo sapiens

Symbol: CV55126
Name: NM_022124.5(CDH23):c.5026G>A (p.Ala1676Thr)
Condition: AllHighlyPenetrant [RCV000039195]|Nonsyndromic Hearing Loss, Recessive [RCV000365175]|Retinitis pigmentosa-deafness syndrome [RCV000265777]|not specified [RCV000039195]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.5026G>A
NG_008835.1:g.385914G>A
NC_000010.11:g.71777860G>A
NC_000010.10:g.73537617G>A
NP_071407.4:p.Ala1676Thr
c.5026G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,777,860 - 71,777,860CLINVAR
GRCh371073,537,617 - 73,537,617CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608823
Created: 2014-05-13
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.