NM_198551.4(MIA3):c.1939G>A (p.Glu647Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004419443.1
Allele description [Variation Report for NM_198551.4(MIA3):c.1939G>A (p.Glu647Lys)]
NM_198551.4(MIA3):c.1939G>A (p.Glu647Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 7, 2024