NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) AND not provided
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001091982.28
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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Lung Atypical Carcinoid Tumor
Lung Atypical Carcinoid TumorMedGen
-
Isolated anterior cervical hypertrichosis
Isolated anterior cervical hypertrichosisMedGen
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024