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.1998T>A (p.Cys666Ter) | PROS1 | Likely pathogenic | 3 | 93593122 | 93593122 | A | T | criteria provided, single submitter | - |