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NM_000358:p.Leu472Leu

TGFBI
NM_000358:c.1416C>T

Information

Variant Locale EXON11
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr5:135391374: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

2201/8236
European American Alternate Allele Count

1182/3844
African American Alternate Allele Count
1000 Genomes
European

23/100
Utah residents, Northern and Western European ancestry

19/102
Toscani in Italia

32/98
British from England and Scotland

32/114
Finnish from Finland

19/88
Iberian populations in Spain
 
East Asian

18/82
Han Chinese in Beijing, China

41/136
Japanese in Toyko, Japan

17/72
Han Chinese South

2/44
Chinese Dai in Xishuangbanna

19/88
Iberian populations in Spain

20/108
Kinh in Ho Chi Minh City, Vietnam
West African

42/142
Yoruba in Ibadan, Nigeria

6/48
Luhya in Webuye, Kenya
 
Americas

36/98
African Ancestry in Southwest US

27/96
African Caribbean in Barbados

15/116
Mexican Ancestry in Los Angeles, CA

29/116
Puerto Rican in Puerto Rico

21/84
Colombian in Medellin, Colombia

16/76
Peruvian in Lima, Peru
South Asian

54/144
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1893
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