NM_000130.5(F5):c.3438C>G (p.His1146Gln) AND Factor V deficiency
- Germline classification:
- Likely benign (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:
- RCV000388701.9
Allele description [Variation Report for NM_000130.5(F5):c.3438C>G (p.His1146Gln)]
NM_000130.5(F5):c.3438C>G (p.His1146Gln)
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
-
SAMN43395135 (1)
SRA
-
nuclear receptor corepressor 2 isoform 3 [Homo sapiens]
nuclear receptor corepressor 2 isoform 3 [Homo sapiens]gi|331284180|ref|NP_001193583.1|Protein
-
c-myc binding protein [Homo sapiens]
c-myc binding protein [Homo sapiens]gi|30583057|gb|AAP35773.1|Protein
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Last Updated: Sep 29, 2024