NM_001113378.2(FANCI):c.1046T>G (p.Phe349Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003292046.2
Allele description [Variation Report for NM_001113378.2(FANCI):c.1046T>G (p.Phe349Cys)]
NM_001113378.2(FANCI):c.1046T>G (p.Phe349Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024