Table 2 Subset of HGMD variants seen in a pathogenic genotype in 1KGP. See Additional file 8: Table S6 for the full list of HGMD variants
Chr | Position in GRCh38 | Ref | Alt | Gene, transcript ID | cDNA, protein | No. of hom or hemi in 1KGP | No. of comp het in 1KGP | 1KGP sample ID(s) | Variant-specific assay | Outcome | PubMed ID | HGMD 2014 | HGMD 2020 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
12 | 120,739,317 | A | G | ACADS, NM_000017.4 | c.1108A > G p.M370V | 1 | 0 | NA20878 | In vitro activity in mouse mitochondria | Very mild effect on protein misfolding | 18523805 | DM | DM |
21 | 43,060,481 | G | A | CBS, NM_000071.3 | c.1105C > T p.R369C | 0 | 2 | HG02645 NA20289 | Yeast model | No effect on enzyme function | 9361025 | DM | DM |
X | 38,381,417 | C | T | OTC, NM_000531.6 | c.374C > T p.T125M | 1 | 0 | NA19117 | No | NA | 8807340 | DM | DM |