Table 1:
GNAQ and GNA11 Mutations identified in Patients 1–3
| Gene | Patient 1. GNAQ | Patient 2. GNAQ | Patient 3. GNA11 |
|---|---|---|---|
| Chromosome position | 9:80412493 | 9:80412493 | 19:3115012 |
| HGVS DNA Reference | NM_002072: c.548G>A | NM_002072: c.548G>A | NM_002067.2: c.547C>T |
| HGVS Protein Reference | p.Arg183Gln | p.Arg183Gln | p.Arg183Cys |
| Mutation Type | Single nucleotide alteration | Single nucleotide alteration | Single nucleotide alteration |
| Predicted Effect | missense | missense | missense |
| dbSNP/dbVar ID | rs397514698 | rs397514698 | NA |
| Genotype | Heterozygous, mosaic | Heterozygous, mosaic | Heterozygous, mosaic |
| ClinVar ID | 50853 | 50853 | NA |
| Number of reads (alternate:reference) | 12:199 skin | 62:1175 skin 8:260 buccal |
78:1713 skin |
| Clinical Significance | Pathogenic | Pathogenic | Pathogenic |
| Parent of Origin | de novo | de novo | de novo |
| Patient Blood Sample | Not detected | Not detected | Not detected |
| gnomAD Allele Frequency | Absent | Absent | Absent |