NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002560547.2
Allele description [Variation Report for NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val)]
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024