Table 3 Two novel mutations in the FREM1 gene were found in the twins
From: Two novel mutations within FREM1 gene in patients with bifid nose
Gene | hg19 location | RS number | Variant naming | gnomAD_ EAS crowd frequency | Zygote type | Kin zygote type | |
|---|---|---|---|---|---|---|---|
Father | Mother | ||||||
FREM1 | chr9:14851562_14851568 | / | FREM1:NM_144966.7:exon7:c.870_876del:p.P2 91Rfs*20 | / | Heterozygotes | Heterozygotes | Wild type |
FREM1 | chr9:14,868,974 | rs1464587064 | FREM1:NM_144966.7:exon3:c.2 T > C:p.M1? | 0 | Heterozygotes | Wild type | Heterozygotes |