NM_000101.4(CYBA):c.549C>G (p.Pro183=) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000642292.8
Allele description
NM_000101.4(CYBA):c.549C>G (p.Pro183=)
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
-
PREDICTED: protein bassoon isoform X4 [Calidris pugnax]
PREDICTED: protein bassoon isoform X4 [Calidris pugnax]gi|960987295|ref|XP_014809003.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024