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Variant : CV315976 (NM_022124.5(CDH23):c.8743C>T (p.Arg2915Cys)) Homo sapiens

Symbol: CV315976
Name: NM_022124.5(CDH23):c.8743C>T (p.Arg2915Cys)
Condition: CDH23-Related Disorders [RCV000353096]|Nonsyndromic Hearing Loss, Recessive [RCV000318000]|Retinitis pigmentosa-deafness syndrome [RCV000260570]
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.8743C>T
NG_008835.1:g.417894C>T
NC_000010.11:g.71809840C>T
NC_000010.10:g.73569597C>T
NP_071407.4:p.Arg2915Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,809,840 - 71,809,840CLINVAR
GRCh371073,569,597 - 73,569,597CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11598877
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.