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NM_206933:p.Glu3912Glu

USH2A
NM_206933:c.11736G>A

Information

Variant Locale EXON61
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:215901702:C>T
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

17/8600
European American Alternate Allele Count

561/4404
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

1/122
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

3/116
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

3/116
Iberian populations in Spain

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

19/162
Yoruba in Ibadan, Nigeria

5/48
Luhya in Webuye, Kenya
 
Americas

11/98
African Ancestry in Southwest US

18/110
African Caribbean in Barbados

1/116
Mexican Ancestry in Los Angeles, CA

6/140
Puerto Rican in Puerto Rico

2/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/212
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