NM_000433.4(NCF2):c.130G>T (p.Gly44Cys) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000059359.1
Allele description [Variation Report for NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)]
NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)
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
-
Homo sapiens GRB2 related adaptor protein 2 (GRAP2), transcript variant 2, mRNA
Homo sapiens GRB2 related adaptor protein 2 (GRAP2), transcript variant 2, mRNAgi|625180308|ref|NM_001291825.1|Nucleotide
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Last Updated: Aug 5, 2023