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Variant : CV439918 (NM_022124.5(CDH23):c.9129del (p.Asn3044Thrfs)) Homo sapiens

Symbol: CV439918
Name: NM_022124.5(CDH23):c.9129del (p.Asn3044Thrfs)
Condition: Deafness, autosomal recessive 12 [RCV000515678]
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.73571123delG
NP_071407.4:p.Asn3044Thrfs
NC_000010.11:g.71811366delG
NM_022124.5:c.9129del
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,811,366 - 71,811,366CLINVAR
GRCh371073,571,123 - 73,571,123CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13463110
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.