Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000313.4(PROS1):c.728-1G>A | PROS1 | Likely pathogenic | 3 | 93617414 | 93617414 | C | T | criteria provided, single submitter | ClinGen:CA233399 |