NM_138387.4(G6PC3):c.417-18T>G AND Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003601727.2
Allele description [Variation Report for NM_138387.4(G6PC3):c.417-18T>G]
NM_138387.4(G6PC3):c.417-18T>G
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
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AAA family ATPase [Mesobacillus selenatarsenatis]
AAA family ATPase [Mesobacillus selenatarsenatis]gi|754571091|ref|WP_041964398.1|Protein
-
redoxin domain-containing protein [Mesobacillus selenatarsenatis]
redoxin domain-containing protein [Mesobacillus selenatarsenatis]gi|754571563|ref|WP_041964859.1|Protein
-
MIGS Cultured Bacterial/Archaeal sample from Bifidobacterium lemurum
MIGS Cultured Bacterial/Archaeal sample from Bifidobacterium lemurumbiosample
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Last Updated: Sep 29, 2024