Table 1.
Variant table
| Gene | Chromosome | NCBI reference sequence | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | dbSNP/dbVar ID | Genotype |
|---|---|---|---|---|---|---|---|---|
| PHIP | 6q14.1 | NM_017934.5 | c.50T>C | p.F17S | Missense | Loss of function | None | Heterozygous |
| PHIP | 6q14.1 | NM_017934.5 | c.779delT | p.L260Wfs*48 | Frameshift deletion | Loss of function | None | Heterozygous |
NCBI, National Center for Biotechnology Information; HGVS, Human Genome Variation Society; dbSNP, Database for Short Genetic Variations; dbVar, Database of Genomic Structural Variation.