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NM_019098:p.Gln452Gln

CNGB3
NM_019098:c.1356G>A

Information

Variant Locale EXON12
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr8:87641271: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

5/8600
European American Alternate Allele Count

779/4406
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

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

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

33/162
Yoruba in Ibadan, Nigeria

11/48
Luhya in Webuye, Kenya
 
Americas

20/98
African Ancestry in Southwest US

25/110
African Caribbean in Barbados

1/116
Mexican Ancestry in Los Angeles, CA

3/140
Puerto Rican in Puerto Rico

2/96
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. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/2037
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