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Variant : CV55041 (NM_022124.5(CDH23):c.1520C>T (p.Ser507Leu)) Homo sapiens

Symbol: CV55041
Name: NM_022124.5(CDH23):c.1520C>T (p.Ser507Leu)
Condition: AllHighlyPenetrant [RCV000039109]|not specified [RCV000039109]
Clinical Significance: uncertain significance
Last Evaluated: 12/07/2011
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.1520C>T
NG_008835.1:g.285515C>T
NC_000010.11:g.71677461C>T
NC_000010.10:g.73437218C>T
NP_071407.4:p.Ser507Leu
c.1520C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,677,461 - 71,677,461CLINVAR
GRCh371073,437,218 - 73,437,218CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608738
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.