NM_000130.5(F5):c.3168C>T (p.Tyr1056=) AND Congenital factor V deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003762288.2
Allele description [Variation Report for NM_000130.5(F5):c.3168C>T (p.Tyr1056=)]
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
Condition(s)
- Name:
- Congenital factor V deficiency
- Synonyms:
- LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009210; MedGen: C0015499; OMIM: 227400
-
Homo sapiens zinc finger protein 524 (ZNF524), mRNA
Homo sapiens zinc finger protein 524 (ZNF524), mRNAgi|731441388|ref|NM_153219.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024