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Variant : CV513308 (NM_022124.5(CDH23):c.5653C>T (p.Arg1885Cys)) Homo sapiens

Symbol: CV513308
Name: NM_022124.5(CDH23):c.5653C>T (p.Arg1885Cys)
Condition: Deafness, autosomal recessive 12 [RCV000625766]
Clinical Significance: likely pathogenic
Last Evaluated: 12/03/2017
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.5653C>T
NC_000010.11:g.71785041C>T
NP_071407.4:p.Arg1885Cys
NG_008835.1:g.393095C>T
NC_000010.10:g.73544798C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,785,041 - 71,785,041CLINVAR
GRCh371073,544,798 - 73,544,798CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13527796
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-07-16
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.