NM_000631.5(NCF4):c.118-11G>A AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002167069.6
Allele description [Variation Report for NM_000631.5(NCF4):c.118-11G>A]
NM_000631.5(NCF4):c.118-11G>A
Condition(s)
- Name:
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Synonyms:
- CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013507; MedGen: C3151409; Orphanet: 379; OMIM: 613960
-
Mus musculus aprataxin and PNKP like factor (Aplf), transcript variant 2, mRNA
Mus musculus aprataxin and PNKP like factor (Aplf), transcript variant 2, mRNAgi|281427260|ref|NM_024251.4|Nucleotide
-
AGENCOURT_54837911 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7983477 5', m...
AGENCOURT_54837911 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:7983477 5', mRNA sequencegi|70899792|gnl|dbEST|30214455|gb|D 80.1|Nucleotide
-
JGI_XZT21779.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7598208 5'...
JGI_XZT21779.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7598208 5', mRNA sequencegi|74078319|gnl|dbEST|31243693|gb|C 08.2|Nucleotide
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Last Updated: Sep 29, 2024