PDF

NM_000362:p.Ser87Ser

TIMP3
NM_000362:c.261C>T

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr22:33253292: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

632/8600
European American Alternate Allele Count

271/4406
African American Alternate Allele Count
1000 Genomes
European

11/132
Utah residents, Northern and Western European ancestry

11/122
Toscani in Italia

11/136
British from England and Scotland

4/162
Finnish from Finland

3/116
Iberian populations in Spain
 
East Asian

48/146
Han Chinese in Beijing, China

57/148
Japanese in Toyko, Japan

63/180
Han Chinese South

45/146
Chinese Dai in Xishuangbanna

3/116
Iberian populations in Spain

54/148
Kinh in Ho Chi Minh City, Vietnam
West African

9/162
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

8/98
African Ancestry in Southwest US

5/110
African Caribbean in Barbados

25/116
Mexican Ancestry in Los Angeles, CA

16/140
Puerto Rican in Puerto Rico

18/96
Colombian in Medellin, Colombia

41/94
Peruvian in Lima, Peru
South Asian

8/152
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1710
© 2011–2017 The Institute for Vision Research at The University of Iowa