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NM_206933:p.Thr168Thr

USH2A
NM_206933:c.504A>G

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:216592003: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

5531/8600
European American Alternate Allele Count

2225/4406
African American Alternate Allele Count
1000 Genomes
European

97/132
Utah residents, Northern and Western European ancestry

69/122
Toscani in Italia

81/136
British from England and Scotland

120/162
Finnish from Finland

78/116
Iberian populations in Spain
 
East Asian

119/146
Han Chinese in Beijing, China

123/148
Japanese in Toyko, Japan

141/180
Han Chinese South

118/146
Chinese Dai in Xishuangbanna

78/116
Iberian populations in Spain

121/148
Kinh in Ho Chi Minh City, Vietnam
West African

77/162
Yoruba in Ibadan, Nigeria

18/48
Luhya in Webuye, Kenya
 
Americas

52/98
African Ancestry in Southwest US

50/110
African Caribbean in Barbados

73/116
Mexican Ancestry in Los Angeles, CA

83/140
Puerto Rican in Puerto Rico

68/96
Colombian in Medellin, Colombia

66/94
Peruvian in Lima, Peru
South Asian

101/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/330
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