Table 4.
Chr:position GRCh37(hg19) | HGVS cDNA | HGVS protein | Type of variant | Predicted effect | Genotype | Parent of origin |
---|---|---|---|---|---|---|
12:52,093,447 | c.800T>C | p.Leu267Ser | Substitution | Missense | Heterozygous | De novo |
HGVS, Human Genome Variation Society.
Chr:position GRCh37(hg19) | HGVS cDNA | HGVS protein | Type of variant | Predicted effect | Genotype | Parent of origin |
---|---|---|---|---|---|---|
12:52,093,447 | c.800T>C | p.Leu267Ser | Substitution | Missense | Heterozygous | De novo |
HGVS, Human Genome Variation Society.