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Variant : CV55150 (NM_022124.5(CDH23):c.5541C>T (p.Asn1847=)) Homo sapiens

Symbol: CV55150
Name: NM_022124.5(CDH23):c.5541C>T (p.Asn1847=)
Condition: AllHighlyPenetrant [RCV000039220]|not specified [RCV000039220]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 12/08/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts
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.5541C>T
NG_008835.1:g.392983C>T
NC_000010.11:g.71784929C>T
NC_000010.10:g.73544686C>T
NP_071407.4:p.Asn1847=
c.5541C>T
p.Asn1847Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,784,929 - 71,784,929CLINVAR
GRCh371073,544,686 - 73,544,686CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608847
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.