NM_001972.4(ELANE):c.597+5G>A AND Neutropenia
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003809.9
Allele description [Variation Report for NM_001972.4(ELANE):c.597+5G>A]
NM_001972.4(ELANE):c.597+5G>A
Condition(s)
- Name:
- Neutropenia
- Identifiers:
- MONDO: MONDO:0001475; MedGen: C0853697; Human Phenotype Ontology: HP:0001875
Assertion and evidence details
Last Updated: Jun 29, 2024