Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001613.4(ACTA2):c.991-1G>C | ACTA2 | Likely pathogenic | 10 | 90695124 | 90695124 | C | G | criteria provided, single submitter | ClinGen:CA007075 |