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Variant : CV55183 (NM_022124.5(CDH23):c.6705C>T (p.Ile2235=)) Homo sapiens

Symbol: CV55183
Name: NM_022124.5(CDH23):c.6705C>T (p.Ile2235=)
Condition: AllHighlyPenetrant [RCV000039254]|CDH23-Related Disorders [RCV000288177]|Nonsyndromic Hearing Loss, Recessive [RCV000351184]|Retinitis pigmentosa-deafness syndrome [RCV000391735]|not specified [RCV000039254]
Clinical Significance: benign|uncertain significance
Last Evaluated: 01/26/2017
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.6705C>T
NG_008835.1:g.401687C>T
NC_000010.11:g.71793633C>T
NC_000010.10:g.73553390C>T
NP_071407.4:p.Ile2235=
c.6705C>T
p.Ile2235Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,633 - 71,793,633CLINVAR
GRCh371073,553,390 - 73,553,390CLINVAR
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: 8608880
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.