NM_000130.5(F5):c.3211C>T (p.His1071Tyr) AND Thrombophilia due to activated protein C resistance
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000272741.5
Allele description [Variation Report for NM_000130.5(F5):c.3211C>T (p.His1071Tyr)]
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
Condition(s)
- Name:
- Thrombophilia due to activated protein C resistance (THPH2)
- Synonyms:
- PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008560; MedGen: C1861171; OMIM: 188055
-
NADH dehydrogenase subunit I (chloroplast) [Coffea ambongensis]
NADH dehydrogenase subunit I (chloroplast) [Coffea ambongensis]gi|2519759845|ref|YP_010849168.1|Protein
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Last Updated: Sep 29, 2024