NM_000101.4(CYBA):c.574G>A (p.Asp192Asn) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001934013.5
Allele description [Variation Report for NM_000101.4(CYBA):c.574G>A (p.Asp192Asn)]
NM_000101.4(CYBA):c.574G>A (p.Asp192Asn)
Condition(s)
- Name:
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Synonyms:
- CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009308; MedGen: C1856255; Orphanet: 379; OMIM: 233690
-
Mus musculus microRNA 509 (Mir509), microRNA
Mus musculus microRNA 509 (Mir509), microRNAgi|262205943|ref|NR_030575.1|Nucleotide
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Last Updated: Sep 29, 2024