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Variant : CV55127 (NM_022124.5(CDH23):c.5050C>T (p.Arg1684Cys)) Homo sapiens

Symbol: CV55127
Name: NM_022124.5(CDH23):c.5050C>T (p.Arg1684Cys)
Condition: AllHighlyPenetrant [RCV000039196]|Nonsyndromic Hearing Loss, Recessive [RCV000372199]|Retinitis pigmentosa-deafness syndrome [RCV000317490]|not provided [RCV000152949]|not provided [RCV000723750]|not specified [RCV000039196]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/26/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.5050C>T
NG_008835.1:g.385938C>T
NC_000010.11:g.71777884C>T
NC_000010.10:g.73537641C>T
NP_071407.4:p.Arg1684Cys
c.5050C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,777,884 - 71,777,884CLINVAR
GRCh371073,537,641 - 73,537,641CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608824
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.