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Variant : CV310726 (NM_022124.5(CDH23):c.6376C>T (p.Arg2126Cys)) Homo sapiens

Symbol: CV310726
Name: NM_022124.5(CDH23):c.6376C>T (p.Arg2126Cys)
Condition: CDH23-Related Disorders [RCV000360307]|Nonsyndromic Hearing Loss, Recessive [RCV000264398]|Retinitis pigmentosa-deafness syndrome [RCV000324316]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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.6376C>T
NG_008835.1:g.401358C>T
NC_000010.11:g.71793304C>T
NC_000010.10:g.73553061C>T
NP_071407.4:p.Arg2126Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,304 - 71,793,304CLINVAR
GRCh371073,553,061 - 73,553,061CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11599295
Created: 2017-01-11
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.