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Variant : CV175260 (NM_022124.5(CDH23):c.4892C>T (p.Ala1631Val)) Homo sapiens

Symbol: CV175260
Name: NM_022124.5(CDH23):c.4892C>T (p.Ala1631Val)
Condition: CDH23-Related Disorders [RCV000406115]|Nonsyndromic Hearing Loss, Recessive [RCV000279211]|Retinitis pigmentosa-deafness syndrome [RCV000338894]|not specified [RCV000155049]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|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.4892C>T
NG_008835.1:g.385780C>T
NC_000010.11:g.71777726C>T
NC_000010.10:g.73537483C>T
NP_071407.4:p.Ala1631Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,777,726 - 71,777,726CLINVAR
GRCh371073,537,483 - 73,537,483CLINVAR
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: 9689480
Created: 2015-02-10
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.