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

Variant : CV55155 (NM_022124.5(CDH23):c.5713-9A>G) Homo sapiens

Symbol: CV55155
Name: NM_022124.5(CDH23):c.5713-9A>G
Condition: AllHighlyPenetrant [RCV000039225]|not specified [RCV000039225]
Clinical Significance: uncertain significance
Last Evaluated: 03/22/2012
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.5713-9A>G
NG_008835.1:g.393676A>G
NC_000010.11:g.71785622A>G
NC_000010.10:g.73545379A>G
c.5713-9A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,785,622 - 71,785,622CLINVAR
GRCh371073,545,379 - 73,545,379CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608852
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.