PDF

NM_018418:p.Ser182Ser

SPATA7
NM_018418:c.546T>C

Information

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

Call

Variation chr14:88892749: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

2/8600
European American Alternate Allele Count

567/4406
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

27/162
Yoruba in Ibadan, Nigeria

7/48
Luhya in Webuye, Kenya
 
Americas

10/98
African Ancestry in Southwest US

19/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

5/140
Puerto Rican in Puerto Rico

1/96
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/1351
© 2011–2017 The Institute for Vision Research at The University of Iowa