NM_138387.4(G6PC3):c.672T>A (p.Leu224=) AND Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003600895.1
Allele description [Variation Report for NM_138387.4(G6PC3):c.672T>A (p.Leu224=)]
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
Condition(s)
- Name:
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Synonyms:
- Severe congenital neutropenia 4, autosomal recessive; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT; Dursun syndrome
- Identifiers:
- MONDO: MONDO:0012930; MedGen: C2751630; Orphanet: 331176; OMIM: 612541
Assertion and evidence details
Last Updated: Feb 28, 2024