NM_001142864.4(PIEZO1):c.6339G>A (p.Pro2113=) AND PIEZO1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003912291.1
Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6339G>A (p.Pro2113=)]
NM_001142864.4(PIEZO1):c.6339G>A (p.Pro2113=)
Condition(s)
- Name:
- PIEZO1-related disorder
- Synonyms:
- PIEZO1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024