NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg) AND Heparin cofactor II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002222137.2
Allele description [Variation Report for NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)]
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)
Condition(s)
- Name:
- Heparin cofactor II deficiency
- Synonyms:
- HCF II DEFICIENCY; HCF2 DEFICIENCY; THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012876; MedGen: C0398626; OMIM: 612356
-
Homo sapiens Fas associated factor family member 2 (FAF2), mRNA
Homo sapiens Fas associated factor family member 2 (FAF2), mRNAgi|1519242961|ref|NM_014613.3|Nucleotide
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Last Updated: Sep 1, 2024