SWISSVAR
Home  |  Contact

1 protein found in SwissVar (5 variants)

with gene/protein name Q99593

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q99593 TBX5_HUMAN holt-oram syndrome p.Gln49Lys
p.Ile54Thr
p.Gly80Arg
p.Arg237Trp
p.Arg237Gln





Q99593 TBX5_HUMAN heart disorders including dilated cardiomyopathy and atrial fibrillation