Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000313.3(PROS1):c.-168C>T | PROS1 | Likely pathogenic | 3 | 93692761 | 93692761 | G | A | criteria provided, single submitter | - |