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NM_000358:p.Phe540Phe

TGFBI
NM_000358:c.1620T>C

Information

Variant Locale EXON12
PubMed ID (no data)
dbSNP ID rs4669

Call

Variation chr5:135392426:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Non-conserved Non-conserved
-1.131 -2.69

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2249/8324
European American Alternate Allele Count

2356/3938
African American Alternate Allele Count
1000 Genomes
European

26/114
Utah residents, Northern and Western European ancestry

19/102
Toscani in Italia

29/102
British from England and Scotland

32/116
Finnish from Finland

23/80
Iberian populations in Spain
 
East Asian

22/82
Han Chinese in Beijing, China

50/134
Japanese in Toyko, Japan

25/90
Han Chinese South

21/74
Chinese Dai in Xishuangbanna

23/80
Iberian populations in Spain

41/112
Kinh in Ho Chi Minh City, Vietnam
West African

106/148
Yoruba in Ibadan, Nigeria

30/48
Luhya in Webuye, Kenya
 
Americas

68/98
African Ancestry in Southwest US

62/90
African Caribbean in Barbados

43/116
Mexican Ancestry in Los Angeles, CA

38/120
Puerto Rican in Puerto Rico

34/88
Colombian in Medellin, Colombia

31/72
Peruvian in Lima, Peru
South Asian

56/146
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs1054164, rs2228406, rs3173019, rs7727187, rs17403539, rs17849263, rs17849891, rs56414978, rs59886758, rs4669 | 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/1899
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