Variants
GAMT variants
Predicted effect: Synonymous. The one GAMT variant of the 69 with a page here. Its page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.114C>T | Exon 1 | 1,401,363 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |