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

Variant : CV439914 (NM_022124.5(CDH23):c.6085C>T (p.Arg2029Trp)) Homo sapiens

Symbol: CV439914
Name: NM_022124.5(CDH23):c.6085C>T (p.Arg2029Trp)
Condition: Deafness, autosomal recessive 12 [RCV000515743]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2017
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.6085C>T
NG_008835.1:g.399221C>T
NC_000010.11:g.71791167C>T
NC_000010.10:g.73550924C>T
NP_071407.4:p.Arg2029Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,791,167 - 71,791,167CLINVAR
GRCh371073,550,924 - 73,550,924CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462332
Created: 2017-12-12
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.