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

Variant : CV55195 (NM_022124.5(CDH23):c.7442C>G (p.Pro2481Arg)) Homo sapiens

Symbol: CV55195
Name: NM_022124.5(CDH23):c.7442C>G (p.Pro2481Arg)
Condition: AllHighlyPenetrant [RCV000039266]|not specified [RCV000039266]
Clinical Significance: uncertain significance
Last Evaluated: 02/14/2011
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.7442C>G
NG_008835.1:g.408769C>G
NC_000010.11:g.71800715C>G
NC_000010.10:g.73560472C>G
NP_071407.4:p.Pro2481Arg
c.7442C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,800,715 - 71,800,715CLINVAR
GRCh371073,560,472 - 73,560,472CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608892
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.