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Genomic findings and variant interpretation
| Gene | Genomic location | HGVS cDNA | HGVS protein | Zygosity | Parent of origin | Variant interpretation |
|---|---|---|---|---|---|---|
| VARS | Chr 6:31762930 (hg19) Chr 6:31795153 (hg38) |
c.65C>A | p.Ala22Asp | Heterozygous | Maternal | Variant of uncertain significance |
| VARS | Chr 6:31747459 (hg19) Chr 6:31779682 (hg38) |
c.3214T>C | p.Phe1072Leu | Heterozygous | Paternal | Variant of uncertain significance |
