NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002954468.2
Allele description [Variation Report for NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys)]
NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024