NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND Arthrogryposis, distal, with impaired proprioception and touch
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147342.2
Allele description [Variation Report for NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)]
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024