NM_000101.4(CYBA):c.467dup (p.Pro157fs) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002736564.2
Allele description
NM_000101.4(CYBA):c.467dup (p.Pro157fs)
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
-
B- and T-lymphocyte attenuator isoform X2 [Homo sapiens]
B- and T-lymphocyte attenuator isoform X2 [Homo sapiens]gi|1034631344|ref|XP_016861237.1|Protein
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Last Updated: Feb 20, 2024