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Variant : CV174966 (NM_022124.5(CDH23):c.2236G>A (p.Val746Ile)) Homo sapiens

Symbol: CV174966
Name: NM_022124.5(CDH23):c.2236G>A (p.Val746Ile)
Condition: Deafness, autosomal recessive 12 [RCV000764912]|not provided [RCV000657974]|not specified [RCV000150283]
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 variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.2236G>A
NG_008835.1:g.302260G>A
NC_000010.11:g.71694206G>A
NC_000010.10:g.73453963G>A
NP_071407.4:p.Val746Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,694,206 - 71,694,206CLINVAR
GRCh371073,453,963 - 73,453,963CLINVAR
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: 9691475
Created: 2015-02-10
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.