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NM_004183:p.Ser519Ser

BEST1
NM_004183:c.1557C>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr11:61730183: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

1998/8598
European American Alternate Allele Count

219/4404
African American Alternate Allele Count
1000 Genomes
European

25/132
Utah residents, Northern and Western European ancestry

28/122
Toscani in Italia

31/136
British from England and Scotland

25/162
Finnish from Finland

26/116
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

26/116
Iberian populations in Spain

2/148
Kinh in Ho Chi Minh City, Vietnam
West African

1/162
Yoruba in Ibadan, Nigeria

2/48
Luhya in Webuye, Kenya
 
Americas

6/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

19/116
Mexican Ancestry in Los Angeles, CA

21/140
Puerto Rican in Puerto Rico

17/96
Colombian in Medellin, Colombia

2/94
Peruvian in Lima, Peru
South Asian

27/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1124
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