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NM_201253:p.Leu470Leu

CRB1
NM_201253:c.1410A>G

Information

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

Call

Variation chr1:197390368:A>G
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

8588/8600
European American Alternate Allele Count

3391/4406
African American Alternate Allele Count
1000 Genomes
European

132/132
Utah residents, Northern and Western European ancestry

122/122
Toscani in Italia

136/136
British from England and Scotland

162/162
Finnish from Finland

115/116
Iberian populations in Spain
 
East Asian

146/146
Han Chinese in Beijing, China

148/148
Japanese in Toyko, Japan

180/180
Han Chinese South

146/146
Chinese Dai in Xishuangbanna

115/116
Iberian populations in Spain

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

114/162
Yoruba in Ibadan, Nigeria

33/48
Luhya in Webuye, Kenya
 
Americas

73/98
African Ancestry in Southwest US

84/110
African Caribbean in Barbados

114/116
Mexican Ancestry in Los Angeles, CA

136/140
Puerto Rican in Puerto Rico

95/96
Colombian in Medellin, Colombia

94/94
Peruvian in Lima, Peru
South Asian

154/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/75
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