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Variant : CV55050 (NM_022124.5(CDH23):c.198G>A (p.Val66=)) Homo sapiens

Symbol: CV55050
Name: NM_022124.5(CDH23):c.198G>A (p.Val66=)
Condition: AllHighlyPenetrant [RCV000039118]|Nonsyndromic Hearing Loss, Recessive [RCV000372580]|Retinitis pigmentosa-deafness syndrome [RCV000315724]|not specified [RCV000039118]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 02/06/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23   CDH23-AS1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.198G>A
NG_008835.1:g.118188G>A
NC_000010.11:g.71510134G>A
NC_000010.10:g.73269891G>A
NP_071407.4:p.Val66=
c.198G>A
p.Val66Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,510,134 - 71,510,134CLINVAR
GRCh371073,269,891 - 73,269,891CLINVAR
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: 8608747
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.