NM_000433.4(NCF2):c.112C>T (p.Arg38Trp) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000794385.5
Allele description [Variation Report for NM_000433.4(NCF2):c.112C>T (p.Arg38Trp)]
NM_000433.4(NCF2):c.112C>T (p.Arg38Trp)
Condition(s)
- Name:
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- Synonyms:
- CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
- Identifiers:
- MONDO: MONDO:0009310; MedGen: C1856245; Orphanet: 379; OMIM: 233710
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BJ094394 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ094394 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL145f17 5', mRNA sequencegi|17594396|gnl|dbEST|10562717|dbj| 394.1|Nucleotide
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Last Updated: May 7, 2024