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NM_206933:p.Gly1671Gly

USH2A
NM_206933:c.5013C>A

Information

Variant Locale EXON25
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:216258194:G>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

1481/8600
European American Alternate Allele Count

844/4406
African American Alternate Allele Count
1000 Genomes
European

25/132
Utah residents, Northern and Western European ancestry

16/122
Toscani in Italia

20/136
British from England and Scotland

25/162
Finnish from Finland

21/116
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

21/116
Iberian populations in Spain

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

39/162
Yoruba in Ibadan, Nigeria

10/48
Luhya in Webuye, Kenya
 
Americas

15/98
African Ancestry in Southwest US

27/110
African Caribbean in Barbados

15/116
Mexican Ancestry in Los Angeles, CA

14/140
Puerto Rican in Puerto Rico

8/96
Colombian in Medellin, Colombia

6/94
Peruvian in Lima, Peru
South Asian

10/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/255
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