NM_000505.4(F12):c.711C>T (p.Pro237=) AND Hereditary angioedema type 3
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000363476.6
Allele description [Variation Report for NM_000505.4(F12):c.711C>T (p.Pro237=)]
NM_000505.4(F12):c.711C>T (p.Pro237=)
Condition(s)
- Name:
- Hereditary angioedema type 3 (HAE3)
- Synonyms:
- ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012526; MedGen: C1857728; OMIM: 610618
Assertion and evidence details
Last Updated: Feb 20, 2024