NM_000130.5(F5):c.1830_1831dup (p.His611fs) AND Thrombophilia due to activated protein C resistance
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003333109.1
Allele description [Variation Report for NM_000130.5(F5):c.1830_1831dup (p.His611fs)]
NM_000130.5(F5):c.1830_1831dup (p.His611fs)
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
-
C-Myc-binding protein [Homo sapiens]
C-Myc-binding protein [Homo sapiens]gi|57242777|ref|NP_036465.2|Protein
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Last Updated: Sep 16, 2024