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Variant : CV55043 (NM_022124.5(CDH23):c.1620C>T (p.Gly540=)) Homo sapiens

Symbol: CV55043
Name: NM_022124.5(CDH23):c.1620C>T (p.Gly540=)
Condition: AllHighlyPenetrant [RCV000039111]|not specified [RCV000039111]
Clinical Significance: likely benign
Last Evaluated: 02/07/2013
Review Status: classified by single submitter|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.1620C>T
NG_008835.1:g.285615C>T
NC_000010.11:g.71677561C>T
NC_000010.10:g.73437318C>T
NP_071407.4:p.Gly540=
c.1620C>T
p.Gly540Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,677,561 - 71,677,561CLINVAR
GRCh371073,437,318 - 73,437,318CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608740
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.