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Variant : CV55138 (NM_022124.5(CDH23):c.5297T>C (p.Phe1766Ser)) Homo sapiens

Symbol: CV55138
Name: NM_022124.5(CDH23):c.5297T>C (p.Phe1766Ser)
Condition: AllHighlyPenetrant [RCV000039208]|CDH23-Related Disorders [RCV000355896]|Nonsyndromic Hearing Loss, Recessive [RCV000297276]|Retinitis pigmentosa-deafness syndrome [RCV000260759]|not provided [RCV000755231]|not specified [RCV000039208]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/19/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.5297T>C
NG_008835.1:g.387430T>C
NC_000010.11:g.71779376T>C
NC_000010.10:g.73539133T>C
NP_071407.4:p.Phe1766Ser
c.5297T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,779,376 - 71,779,376CLINVAR
GRCh371073,539,133 - 73,539,133CLINVAR
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: 8608835
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.