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Variant : CV322656 (NM_022124.5(CDH23):c.1168T>C (p.Leu390=)) Homo sapiens

Symbol: CV322656
Name: NM_022124.5(CDH23):c.1168T>C (p.Leu390=)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000323059]|Retinitis pigmentosa-deafness syndrome [RCV000267939]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.1168T>C
NG_008835.1:g.253912T>C
NC_000010.11:g.71645858T>C
NC_000010.10:g.73405615T>C
NP_071407.4:p.Leu390=
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,645,858 - 71,645,858CLINVAR
GRCh371073,405,615 - 73,405,615CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11599701
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.