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Variant : CV439915 (NM_022124.5(CDH23):c.6667del (p.Leu2223Trpfs)) Homo sapiens

Symbol: CV439915
Name: NM_022124.5(CDH23):c.6667del (p.Leu2223Trpfs)
Condition: Deafness, autosomal recessive 12 [RCV000515683]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2017
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.73553352delC
NC_000010.11:g.71793595delC
NP_071407.4:p.Leu2223Trpfs
NM_022124.5:c.6667del
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,595 - 71,793,595CLINVAR
GRCh371073,553,352 - 73,553,352CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462238
Created: 2017-12-12
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.