Table 1.
Gene | Variant | Chr | HGVS DNA Ref. | HGVS protein Ref. | Variant type | Predicted effect | dbSNP ID | Genotype | ClinVar ID |
---|---|---|---|---|---|---|---|---|---|
NRXN1 | c.2686C>T (p.Arg896Trp) | 2 | NM_004801 | NP_004792 | Missense | Substitution | rs79605277 | Heterozygous | SCV000241889.13 |
NRXN2 | c.3176G>A (p.Arg1059Gln) | 11 | NM_138732 | NP_620060 | Missense | Substitution | rs777033569 | Heterozygous | SCV000863537 |
(Chr) Chromosome, (HGVS) Human Genome Variation Society.