Familial Thoracic Aortic Aneurysm (21 genes) - UGent

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Full name:
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Quality coverage:
SKI (exon 1), FBN2 (relevant exons)
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
17 Jun 2019 - 09:51
Changed:
19 Dec 2022 - 12:31
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACTA2 100.00 1
BGN 100.00 1
COL3A1 100.00 1
EFEMP2 100.00 1
FBN1 100.00 1
FOXE3 100.00 1
HCN4 100.00 1
IPO8 100.00 1
LOX 100.00 1
LTBP3 100.00 1
MAT2A 100.00 1
MFAP5 100.00 1
MYH11 100.00 1
MYLK 100.00 1
PRKG1 100.00 1
SMAD2 100.00 1
SMAD3 100.00 1
TGFB2 100.00 1
TGFB3 100.00 1
TGFBR1 100.00 1
TGFBR2 100.00 1