NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn) AND Protein S deficiency disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851991.1
Allele description [Variation Report for NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)]
NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)
Condition(s)
- Name:
- Protein S deficiency disease
- Synonyms:
- Protein S deficiency
- Identifiers:
- MONDO: MONDO:0002304; MeSH: D018455; MedGen: C0242666
Assertion and evidence details
Last Updated: Aug 15, 2022