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

Variant : CV55173 (NM_022124.5(CDH23):c.6329C>T (p.Ala2110Val)) Homo sapiens

Symbol: CV55173
Name: NM_022124.5(CDH23):c.6329C>T (p.Ala2110Val)
Condition: AllHighlyPenetrant [RCV000039243]|not provided [RCV000178668]|not specified [RCV000039243]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/22/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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.6329C>T
NG_008835.1:g.401311C>T
NC_000010.11:g.71793257C>T
NC_000010.10:g.73553014C>T
NP_071407.4:p.Ala2110Val
c.6329C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,257 - 71,793,257CLINVAR
GRCh371073,553,014 - 73,553,014CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608870
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.