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Variant : CV55039 (NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu)) Homo sapiens

Symbol: CV55039
Name: NM_022124.5(CDH23):c.1478G>A (p.Gly493Glu)
Condition: AllHighlyPenetrant [RCV000039107]|not specified [RCV000039107]
Clinical Significance: uncertain significance
Last Evaluated: 04/03/2013
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.1478G>A
NG_008835.1:g.283194G>A
NC_000010.11:g.71675140G>A
NC_000010.10:g.73434897G>A
NP_071407.4:p.Gly493Glu
c.1478G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,675,140 - 71,675,140CLINVAR
GRCh371073,434,897 - 73,434,897CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608736
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.