NM_000130.5(F5):c.112G>A (p.Ala38Thr) AND Thrombophilia due to activated protein C resistance
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989414.2
Allele description [Variation Report for NM_000130.5(F5):c.112G>A (p.Ala38Thr)]
NM_000130.5(F5):c.112G>A (p.Ala38Thr)
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
-
PREDICTED: Homo sapiens oxysterol binding protein like 8 (OSBPL8), transcript va...
PREDICTED: Homo sapiens oxysterol binding protein like 8 (OSBPL8), transcript variant X15, mRNAgi|2217287327|ref|XM_047428255.1|Nucleotide
-
Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 1, mRNA
Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 1, mRNAgi|1799135577|ref|NM_001114759.3|Nucleotide
-
M-phase phosphoprotein 6 isoform X1 [Homo sapiens]
M-phase phosphoprotein 6 isoform X1 [Homo sapiens]gi|767989259|ref|XP_011521110.1|Protein
-
psbZ [Reevesia tomentosa]
psbZ [Reevesia tomentosa]Gene ID:87699721Gene
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Last Updated: Aug 4, 2024