omia.variant:1042

Genomic description: NC_040260.1:g.[91651651A>C;91651669A>T]

Coding DNA description: XM_012184130.2:c.[2042T>A;2060T>G]

Protein description: XP_012039520.2:p.[(I681N);(I687S)]

Gene: TMEM67

Phenes where this variant occurs: