NM_001114753.3(ENG):c.63dup (p.Thr22fs) AND Telangiectasia, hereditary hemorrhagic, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001262063.3
Allele description [Variation Report for NM_001114753.3(ENG):c.63dup (p.Thr22fs)]
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023