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NM_206933:p.Thr473Thr

USH2A
NM_206933:c.1419C>T

Information

Variant Locale EXON8
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:216496947:G>A
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

2149/8600
European American Alternate Allele Count

1694/4406
African American Alternate Allele Count
1000 Genomes
European

29/132
Utah residents, Northern and Western European ancestry

31/122
Toscani in Italia

37/136
British from England and Scotland

25/162
Finnish from Finland

33/116
Iberian populations in Spain
 
East Asian

22/146
Han Chinese in Beijing, China

23/148
Japanese in Toyko, Japan

25/180
Han Chinese South

14/146
Chinese Dai in Xishuangbanna

33/116
Iberian populations in Spain

17/148
Kinh in Ho Chi Minh City, Vietnam
West African

61/162
Yoruba in Ibadan, Nigeria

23/48
Luhya in Webuye, Kenya
 
Americas

28/98
African Ancestry in Southwest US

34/110
African Caribbean in Barbados

37/116
Mexican Ancestry in Los Angeles, CA

48/140
Puerto Rican in Puerto Rico

15/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

34/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/309
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