Table 1 Genotype of the six family members
From: Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate
Name | Members of the pedigree | Gene | Exon / intron | Transcript number | Nucleotide change | Amino acid changes | Heterozygous / homozygous | Source of variation |
|---|---|---|---|---|---|---|---|---|
IV:4 | Proband | TP63 | Exon10 | NM_003722.5 | c.1324C>T | p.Q442* | Heterozygous | III:3 |
III:2 | Uncle | TP63 | Exon10 | NM_003722.5 | c.1324C>T | p.Q442* | Heterozygous | II:4 |
III:3 | Mother | TP63 | Exon10 | NM_003722.5 | c.1324C>T | p.Q442* | Heterozygous | II:4 |
III:4 | Father | / | / | / | / | / | Not detected | / |
II:4 | Grandmother | TP63 | Exon10 | NM_003722.5 | c.1324C>T | p.Q442* | Heterozygous | / |
II:5 | Grandfather | / | / | / | / | / | Not detected | / |