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Variant : CV55054 (NM_022124.5(CDH23):c.2193G>C (p.Thr731=)) Homo sapiens

Symbol: CV55054
Name: NM_022124.5(CDH23):c.2193G>C (p.Thr731=)
Condition: AllHighlyPenetrant [RCV000039122]|not specified [RCV000039122]
Clinical Significance: likely benign
Last Evaluated: 06/28/2016
Review Status: classified by single submitter|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.2193G>C
NG_008835.1:g.302217G>C
NC_000010.11:g.71694163G>C
NC_000010.10:g.73453920G>C
NP_071407.4:p.Thr731=
c.2193G>C
p.Thr731Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,694,163 - 71,694,163CLINVAR
GRCh371073,453,920 - 73,453,920CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608751
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.