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Variant : CV55176 (NM_022124.5(CDH23):c.6489G>C (p.Leu2163=)) Homo sapiens

Symbol: CV55176
Name: NM_022124.5(CDH23):c.6489G>C (p.Leu2163=)
Condition: AllHighlyPenetrant [RCV000039247]|not provided [RCV000178669]|not provided [RCV000724265]|not specified [RCV000039247]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 08/28/2014
Review Status: classified by single submitter|criteria provided, conflicting interpretations|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.6489G>C
NG_008835.1:g.401471G>C
NC_000010.11:g.71793417G>C
NC_000010.10:g.73553174G>C
NP_071407.4:p.Leu2163=
c.6489G>C
p.Leu2163Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,417 - 71,793,417CLINVAR
GRCh371073,553,174 - 73,553,174CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608873
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.