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.586A>G (p.Lys196Glu) | PROS1 | Pathogenic | 3 | 93624643 | 93624643 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA123032,UniProtKB:P07225#VAR_005566,OMIM:176880.0003 |