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NM_052836:p.Val122Val

CDH23
NM_052836:c.366T>C

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr10:73270906:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

5521/8354
European American Alternate Allele Count

3771/4042
African American Alternate Allele Count
1000 Genomes
European

78/110
Utah residents, Northern and Western European ancestry

52/98
Toscani in Italia

73/98
British from England and Scotland

83/98
Finnish from Finland

53/74
Iberian populations in Spain
 
East Asian

55/66
Han Chinese in Beijing, China

99/134
Japanese in Toyko, Japan

73/94
Han Chinese South

43/52
Chinese Dai in Xishuangbanna

53/74
Iberian populations in Spain

76/106
Kinh in Ho Chi Minh City, Vietnam
West African

140/140
Yoruba in Ibadan, Nigeria

48/48
Luhya in Webuye, Kenya
 
Americas

90/98
African Ancestry in Southwest US

88/92
African Caribbean in Barbados

55/116
Mexican Ancestry in Los Angeles, CA

72/116
Puerto Rican in Puerto Rico

53/84
Colombian in Medellin, Colombia

18/74
Peruvian in Lima, Peru
South Asian

88/142
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, OtoSCOPE.

http://vvd.eng.uiowa.edu/variant/901
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