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NM_025114:p.Ser756Ser

CEP290
NM_025114:c.2268A>G

Information

Variant Locale EXON22
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr12:88505078:T>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

7514/8144
European American Alternate Allele Count

1570/3634
African American Alternate Allele Count
1000 Genomes
European

90/94
Utah residents, Northern and Western European ancestry

74/86
Toscani in Italia

70/80
British from England and Scotland

79/82
Finnish from Finland

48/54
Iberian populations in Spain
 
East Asian

48/48
Han Chinese in Beijing, China

120/124
Japanese in Toyko, Japan

33/34
Han Chinese South

16/18
Chinese Dai in Xishuangbanna

48/54
Iberian populations in Spain

76/80
Kinh in Ho Chi Minh City, Vietnam
West African

40/126
Yoruba in Ibadan, Nigeria

9/48
Luhya in Webuye, Kenya
 
Americas

38/98
African Ancestry in Southwest US

40/88
African Caribbean in Barbados

105/116
Mexican Ancestry in Los Angeles, CA

83/106
Puerto Rican in Puerto Rico

67/76
Colombian in Medellin, Colombia

63/66
Peruvian in Lima, Peru
South Asian

117/136
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1206
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