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Variant : CV55028 (NM_022124.5(CDH23):c.1185C>T (p.Ser395=)) Homo sapiens

Symbol: CV55028
Name: NM_022124.5(CDH23):c.1185C>T (p.Ser395=)
Condition: AllHighlyPenetrant [RCV000039096]|not provided [RCV000174591]|not provided [RCV000724358]|not specified [RCV000039096]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 11/11/2016
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.1185C>T
NG_008835.1:g.253929C>T
NC_000010.11:g.71645875C>T
NC_000010.10:g.73405632C>T
NP_071407.4:p.Ser395=
c.1185C>T
p.Ser395Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,645,875 - 71,645,875CLINVAR
GRCh371073,405,632 - 73,405,632CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608725
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.