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NM_022124:p.Thr1999Ser

CDH23
NM_022124:c.5996C>G

Information

Variant Locale EXON44
PubMed ID (no data)
dbSNP ID rs11592462

Call

Variation chr10:73550117:C>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.75 0 0.001535 0.918665 1.096 4.14

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

4091/8416
European American Alternate Allele Count

1130/4182
African American Alternate Allele Count
1000 Genomes
European

55/112
Utah residents, Northern and Western European ancestry

56/100
Toscani in Italia

47/88
British from England and Scotland

63/124
Finnish from Finland

55/90
Iberian populations in Spain
 
East Asian

11/86
Han Chinese in Beijing, China

21/130
Japanese in Toyko, Japan

14/96
Han Chinese South

15/72
Chinese Dai in Xishuangbanna

55/90
Iberian populations in Spain

16/122
Kinh in Ho Chi Minh City, Vietnam
West African

41/154
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

35/98
African Ancestry in Southwest US

27/100
African Caribbean in Barbados

42/116
Mexican Ancestry in Los Angeles, CA

51/114
Puerto Rican in Puerto Rico

27/78
Colombian in Medellin, Colombia

10/72
Peruvian in Lima, Peru
South Asian

64/146
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, OtoSCOPE, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs11592462 | Gene full name: cadherin-related 23 | Function description: Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. | Disease description: Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

http://vvd.eng.uiowa.edu/variant/910
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