NM_000631.5(NCF4):c.74A>G (p.Asn25Ser) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001923369.4
Allele description [Variation Report for NM_000631.5(NCF4):c.74A>G (p.Asn25Ser)]
NM_000631.5(NCF4):c.74A>G (p.Asn25Ser)
Condition(s)
- Name:
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Synonyms:
- CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013507; MedGen: C3151409; Orphanet: 379; OMIM: 613960
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Last Updated: Dec 24, 2023