NM_000552.5(VWF):c.4824C>T (p.Thr1608=) AND von Willebrand disease type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002244981.9
Allele description [Variation Report for NM_000552.5(VWF):c.4824C>T (p.Thr1608=)]
NM_000552.5(VWF):c.4824C>T (p.Thr1608=)
Condition(s)
- Name:
- von Willebrand disease type 2 (VWD2)
- Synonyms:
- VON WILLEBRAND DISEASE, TYPE II; VWD, TYPE 2; VON WILLEBRAND DISEASE, TYPE 2A/IIE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013304; MedGen: C1264040; Orphanet: 166081; Orphanet: 903; OMIM: 613554
Assertion and evidence details
Last Updated: May 26, 2024