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NM_004183:p.Pro341Pro

BEST1
NM_004183:c.1023C>T

Information

Variant Locale EXON9
PubMed ID (no data)
dbSNP ID rs1801390

Call

Variation chr11:61727438:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Benign Neutral Polymorphism Non-conserved Non-conserved
0 0.001 0.321519 0.00049 -2.762 -10

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

187/8598
European American Alternate Allele Count

147/4404
African American Alternate Allele Count
1000 Genomes
European

2/132
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

(No data)
British from England and Scotland

6/162
Finnish from Finland

4/116
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

1/180
Han Chinese South

2/146
Chinese Dai in Xishuangbanna

4/116
Iberian populations in Spain

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

8/162
Yoruba in Ibadan, Nigeria

2/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

1/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

4/140
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

1/94
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, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs17185259, rs1801390 | Gene full name: bestrophin 1 | Function description: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. | Disease description: Defects in BEST1 are the cause of vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]. A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable and may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.

http://vvd.eng.uiowa.edu/variant/1118
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