NM_000101.4(CYBA):c.192C>T (p.Thr64=) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602661.2
Allele description [Variation Report for NM_000101.4(CYBA):c.192C>T (p.Thr64=)]
NM_000101.4(CYBA):c.192C>T (p.Thr64=)
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
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Arabis ferdinandi-coburgii isolate RK266 internal transcribed spacer 1, partial ...
Arabis ferdinandi-coburgii isolate RK266 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|677278183|gb|KF547375.1|Nucleotide
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Last Updated: Sep 29, 2024