omia.variant:623

Genomic description: NC_058372.1:g.[148709018_148709020del;148709021_148709037dup]

Coding DNA description: XM_003986708.4:c.[995_1011dup;1011_1014del]

Protein description: XP_003986757.2:p.(A338Sfs*21)

Gene: TBXT

Phenes where this variant occurs: