NM_001142864.4(PIEZO1):c.2035G>T (p.Glu679Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000301777.2
Allele description
NM_001142864.4(PIEZO1):c.2035G>T (p.Glu679Ter)
Condition(s)
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Mar 31, 2019