NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) AND Thrombophilia due to protein C deficiency, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001133239.4
Allele description [Variation Report for NM_000312.4(PROC):c.1241G>C (p.Trp414Ser)]
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser)
Condition(s)
- Name:
- Thrombophilia due to protein C deficiency, autosomal dominant
- Synonyms:
- PROC DEFICIENCY, AUTOSOMAL DOMINANT; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
- Identifiers:
- MONDO: MONDO:0008316; MedGen: C2674321; Orphanet: 745; OMIM: 176860
Assertion and evidence details
Last Updated: Apr 9, 2023