NM_001142864.4(PIEZO1):c.2843G>A (p.Arg948His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004503577.1
Allele description [Variation Report for NM_001142864.4(PIEZO1):c.2843G>A (p.Arg948His)]
NM_001142864.4(PIEZO1):c.2843G>A (p.Arg948His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 7, 2024