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NM_206933:p.Thr4204Thr

USH2A
NM_206933:c.12612A>G

Information

Variant Locale EXON63
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:215848641: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

7000/8600
European American Alternate Allele Count

2812/4406
African American Alternate Allele Count
1000 Genomes
European

106/132
Utah residents, Northern and Western European ancestry

103/122
Toscani in Italia

119/136
British from England and Scotland

113/162
Finnish from Finland

99/116
Iberian populations in Spain
 
East Asian

98/146
Han Chinese in Beijing, China

94/148
Japanese in Toyko, Japan

108/180
Han Chinese South

99/146
Chinese Dai in Xishuangbanna

99/116
Iberian populations in Spain

101/148
Kinh in Ho Chi Minh City, Vietnam
West African

101/162
Yoruba in Ibadan, Nigeria

28/48
Luhya in Webuye, Kenya
 
Americas

64/98
African Ancestry in Southwest US

77/110
African Caribbean in Barbados

83/116
Mexican Ancestry in Los Angeles, CA

114/140
Puerto Rican in Puerto Rico

71/96
Colombian in Medellin, Colombia

85/94
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/191
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