Table 3 Overview of the TUBB8 variant
From: Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Gene | exon | cDNA change | Protein change | Mutation type | Genotype | gnomAD AF | ACMG standards |
|---|---|---|---|---|---|---|---|
TUBB8 | 1 | c.10 A > C | p.I4L | Missense | Het | 0 | VUS |