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Variant : CV55203 (NM_022124.5(CDH23):c.7762G>C (p.Glu2588Gln)) Homo sapiens

Symbol: CV55203
Name: NM_022124.5(CDH23):c.7762G>C (p.Glu2588Gln)
Condition: AllHighlyPenetrant [RCV000039274]|not specified [RCV000039274]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/29/2017
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:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.7762G>C
NG_008835.1:g.411364G>C
NC_000010.11:g.71803310G>C
NC_000010.10:g.73563067G>C
NP_071407.4:p.Glu2588Gln
c.7762G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,803,310 - 71,803,310CLINVAR
GRCh371073,563,067 - 73,563,067CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608900
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.