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NM_206933:p.Leu293Leu

USH2A
NM_206933:c.879T>G

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:216498911:A>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

(No data)
European American Alternate Allele Count

(No data)
African American Alternate Allele Count
1000 Genomes
European

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

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

(No data)
Iberian populations in Spain
 
East Asian

12/146
Han Chinese in Beijing, China

9/148
Japanese in Toyko, Japan

6/180
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

7/148
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
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.

http://vvd.eng.uiowa.edu/variant/323
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