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Variant : CV55112 (NM_022124.5(CDH23):c.4391C>T (p.Ala1464Val)) Homo sapiens

Symbol: CV55112
Name: NM_022124.5(CDH23):c.4391C>T (p.Ala1464Val)
Condition: AllHighlyPenetrant [RCV000039181]|Deafness, autosomal recessive 12 [RCV000764918]|not specified [RCV000039181]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.4391C>T
NG_008835.1:g.347729C>T
NC_000010.11:g.71739675C>T
NC_000010.10:g.73499432C>T
NP_071407.4:p.Ala1464Val
c.4391C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,739,675 - 71,739,675CLINVAR
GRCh371073,499,432 - 73,499,432CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; PITUITARY ADENOMA 5, MULTIPLE TYPES; Usher syndrome, type 1D; USHER SYNDROME, TYPE ID



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608809
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.