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

Variant : CV55060 (NM_022124.5(CDH23):c.2337G>A (p.Lys779=)) Homo sapiens

Symbol: CV55060
Name: NM_022124.5(CDH23):c.2337G>A (p.Lys779=)
Condition: AllHighlyPenetrant [RCV000039128]|CDH23-Related Disorders [RCV000364525]|Nonsyndromic Hearing Loss, Recessive [RCV000270255]|Retinitis pigmentosa-deafness syndrome [RCV000309836]|not specified [RCV000039128]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/20/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.2337G>A
NG_008835.1:g.303519G>A
NC_000010.11:g.71695465G>A
NC_000010.10:g.73455222G>A
NP_071407.4:p.Lys779=
c.2337G>A
p.Lys779Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,695,465 - 71,695,465CLINVAR
GRCh371073,455,222 - 73,455,222CLINVAR
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: 8608757
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.