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Variant : CV55132 (NM_022124.5(CDH23):c.5130C>A (p.Ile1710=)) Homo sapiens

Symbol: CV55132
Name: NM_022124.5(CDH23):c.5130C>A (p.Ile1710=)
Condition: AllHighlyPenetrant [RCV000039201]|not provided [RCV000082087]|not provided [RCV000723698]|not specified [RCV000039201]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 02/21/2017
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.5130C>A
NG_008835.1:g.386305C>A
NC_000010.11:g.71778251C>A
NC_000010.10:g.73538008C>A
NP_071407.4:p.(=)
NP_071407.4:p.Ile1710=
c.5130C>A
p.Ile1710Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,778,251 - 71,778,251CLINVAR
GRCh371073,538,008 - 73,538,008CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608829
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.