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Variant : CV55187 (NM_022124.5(CDH23):c.6918G>A (p.Leu2306=)) Homo sapiens

Symbol: CV55187
Name: NM_022124.5(CDH23):c.6918G>A (p.Leu2306=)
Condition: AllHighlyPenetrant [RCV000039258]|not specified [RCV000039258]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/09/2017
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:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.6918G>A
NG_008835.1:g.406496G>A
NC_000010.11:g.71798442G>A
NC_000010.10:g.73558199G>A
NP_071407.4:p.Leu2306=
c.6918G>A
p.Leu2306Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,798,442 - 71,798,442CLINVAR
GRCh371073,558,199 - 73,558,199CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608884
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.