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NM_052836:p.Arg3Cys

CDH23
NM_052836:c.7C>T

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID rs7902757

Call

Variation chr10:73199595:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
0.1 0 0.420749 5.4e-05 -0.351 0.539

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

202/8334
European American Alternate Allele Count

1330/4082
African American Alternate Allele Count
1000 Genomes
European

2/102
Utah residents, Northern and Western European ancestry

1/96
Toscani in Italia

3/104
British from England and Scotland

3/114
Finnish from Finland

6/90
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

6/90
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

68/148
Yoruba in Ibadan, Nigeria

23/48
Luhya in Webuye, Kenya
 
Americas

27/96
African Ancestry in Southwest US

29/94
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

7/116
Puerto Rican in Puerto Rico

5/84
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

9/148
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: rs60485232, rs7902757 | 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/899
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