NM_000310.4(PPT1):c.3G>A (p.Met1Ile) AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002514251.2
Allele description [Variation Report for NM_000310.4(PPT1):c.3G>A (p.Met1Ile)]
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024