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Variant : CV55061 (NM_022124.5(CDH23):c.2388T>C (p.Asp796=)) Homo sapiens

Symbol: CV55061
Name: NM_022124.5(CDH23):c.2388T>C (p.Asp796=)
Condition: AllHighlyPenetrant [RCV000039129]|Nonsyndromic Hearing Loss, Recessive [RCV000322204]|Retinitis pigmentosa-deafness syndrome [RCV000266647]|not specified [RCV000039129]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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.2388T>C
NG_008835.1:g.303570T>C
NC_000010.11:g.71695516T>C
NC_000010.10:g.73455273T>C
NP_071407.4:p.Asp796=
c.2388T>C
p.Asp796Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,695,516 - 71,695,516CLINVAR
GRCh371073,455,273 - 73,455,273CLINVAR
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: 8608758
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.