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NM_000358:p.Leu601Leu

TGFBI
NM_000358:c.1803G>A

Information

Variant Locale EXON13
PubMed ID (no data)
dbSNP ID rs35151677

Call

Variation chr5:135394903:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Disease Causing Non-conserved Non-conserved
0.999245 -0.727 -4.39

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

7/8244
European American Alternate Allele Count

188/3866
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

2/98
Finnish from Finland

(No data)
Iberian populations in Spain
 
East Asian

6/84
Han Chinese in Beijing, China

8/132
Japanese in Toyko, Japan

17/84
Han Chinese South

8/64
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

14/116
Kinh in Ho Chi Minh City, Vietnam
West African

13/142
Yoruba in Ibadan, Nigeria

5/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

8/92
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

1/86
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, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: transforming growth factor, beta-induced, 68kDa | Function description: Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation. | Disease description: Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:607541]. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant.

http://vvd.eng.uiowa.edu/variant/1906
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