NM_000459.5(TEK):c.2744G>A (p.Arg915His) AND Multiple cutaneous and mucosal venous malformations
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000022956.6
Allele description [Variation Report for NM_000459.5(TEK):c.2744G>A (p.Arg915His)]
NM_000459.5(TEK):c.2744G>A (p.Arg915His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024