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

Variant : CV315925 (NM_022124.5(CDH23):c.367G>C (p.Gly123Arg)) Homo sapiens

Symbol: CV315925
Name: NM_022124.5(CDH23):c.367G>C (p.Gly123Arg)
Condition: CDH23-Related Disorders [RCV000395269]|Nonsyndromic Hearing Loss, Recessive [RCV000310415]|Retinitis pigmentosa-deafness syndrome [RCV000345540]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23   CDH23-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.367G>C
NG_008835.1:g.119204G>C
NC_000010.11:g.71511150G>C
NC_000010.10:g.73270907G>C
NP_071407.4:p.Gly123Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,511,150 - 71,511,150CLINVAR
GRCh371073,270,907 - 73,270,907CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11604548
Created: 2017-01-11
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.