NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004020901.1
Allele description [Variation Report for NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)]
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jul 15, 2024