| likely to be a benign variant |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
1
|
likely to be a benign variant
|
| (A;C)
|
1
|
likely to be a benign variant
|
| (C;C)
|
0
|
common in complete genomics
|
aka c.163G>T (p.Gly55Cys)
Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because it's seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).
