Loeys-Dietz Syndrome Mutation Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
6 entries on 1 page. Showing entries 1 - 6.
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Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
SMAD2
SMAD family member 2
18
q21.1
1
9
7
2017-11-07
LDS
SMAD3
SMAD family member 3
15
q21-q22
4
98
72
2018-04-26
LDS3
TGFB2
transforming growth factor, beta 2
1
q41
2
73
30
2018-04-26
LDS4
TGFB3
transforming growth factor, beta 3
14
q24
1
53
18
2018-04-26
LDS5
TGFBR1
transforming growth factor, beta receptor 1
9
q22
1
136
79
2018-04-26
LDS1
TGFBR2
transforming growth factor, beta receptor II (70/80kDa)
3
p22
2
251
122
2018-04-16
LDS2
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