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Variant : CV55223 (NM_022124.5(CDH23):c.8895C>T (p.Pro2965=)) Homo sapiens

Symbol: CV55223
Name: NM_022124.5(CDH23):c.8895C>T (p.Pro2965=)
Condition: AllHighlyPenetrant [RCV000039294]|Nonsyndromic Hearing Loss, Recessive [RCV000348155]|Retinitis pigmentosa-deafness syndrome [RCV000290902]|not specified [RCV000039294]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: synonymous variant|2kb upstream variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.8895C>T
NG_008835.1:g.418046C>T
NC_000010.11:g.71809992C>T
NC_000010.10:g.73569749C>T
NP_071407.4:p.Pro2965=
c.8895C>T
p.Pro2965Pro
NP_071407.4:p.(=)
NM_001171935.1:c.-2300C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,809,992 - 71,809,992CLINVAR
GRCh371073,569,749 - 73,569,749CLINVAR
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: 8608920
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.