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

Variant : CV19968 (NM_022124.5(CDH23):c.902G>A (p.Arg301Gln)) Homo sapiens

Symbol: CV19968
Name: NM_022124.5(CDH23):c.902G>A (p.Arg301Gln)
Condition: Deafness, autosomal recessive 12 [RCV000005212]|not specified [RCV000173892]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 07/08/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_022124.5:c.902G>A
NG_008835.1:g.223627G>A
NC_000010.11:g.71615573G>A
NC_000010.10:g.73375330G>A
NP_071407.4:p.Arg301Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,615,573 - 71,615,573CLINVAR
GRCh371073,375,330 - 73,375,330CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558370
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



NHLBI Logo

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