NM_000130.5(F5):c.1830_1831dup (p.His611fs) AND Factor V deficiency
- 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:
- RCV000852059.1
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:
- Factor V deficiency
- Synonyms:
- Reduced coagulation factor V activity
- Identifiers:
- MONDO: MONDO:0020586; MedGen: C4317320; Orphanet: 326; Human Phenotype Ontology: HP:0003225
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Plant sample from Camelina sativa
Plant sample from Camelina sativabiosample
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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
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psbZ [Reevesia tomentosa]
psbZ [Reevesia tomentosa]Gene ID:87699721Gene
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Last Updated: Sep 16, 2024