NM_000310.4(PPT1):c.17G>T (p.Cys6Phe) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002573556.2
Allele description [Variation Report for NM_000310.4(PPT1):c.17G>T (p.Cys6Phe)]
NM_000310.4(PPT1):c.17G>T (p.Cys6Phe)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024