NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 22, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000623552.3
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)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Cervical hypertrichosis with underlying kyphoscoliosis
Cervical hypertrichosis with underlying kyphoscoliosisMedGen
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Last Updated: Oct 8, 2024