SERPING1ID10213Ac.550G > A (p.Gly184Arg)dis DExon 3 skipping (cca 95%) (band B), down IR (band A)p.Asp18Glyfs*26 (NMD?)p.Gly184Serfs*72 (NMD?)Monoallelic expression (wt only)–
Patient: ID1021
Variant: c.550G > A (p.Gly184Arg)
CAID: CA219267
Functional effect: Monoallelic expression (wt only). Observed in blood.
SERPING1ID10213Ac.550G > A (p.Gly184Arg)dis DExon 3 skipping (cca 95%) (band B), down IR (band A)p.Asp18Glyfs*26 (NMD?)p.Gly184Serfs*72 (NMD?)Monoallelic expression (wt only)–
Patient: ID1021
Variant: c.550G > A (p.Gly184Arg)
CAID: CA219267
Functional effect: Monoallelic expression (wt only). Observed in blood.