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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:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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)

Gene:
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)
HGVS:
  • NC_000001.11:g.183590200C>A
  • NG_007267.1:g.5382G>T
  • NM_000433.4:c.130G>TMANE SELECT
  • NM_001127651.3:c.130G>T
  • NM_001190789.2:c.130G>T
  • NM_001190794.2:c.130G>T
  • NP_000424.2:p.Gly44Cys
  • NP_000424.2:p.Gly44Cys
  • NP_001121123.1:p.Gly44Cys
  • NP_001177718.1:p.Gly44Cys
  • NP_001177723.1:p.Gly44Cys
  • LRG_88t1:c.130G>T
  • LRG_88:g.5382G>T
  • LRG_88p1:p.Gly44Cys
  • NC_000001.10:g.183559335C>A
  • NM_000433.3:c.130G>T
  • P19878:p.Gly44Cys
Protein change:
G44C
Links:
UniProtKB: P19878#VAR_065003; UniProtKB/Swiss-Prot: VAR_065003; dbSNP: rs137854510
NCBI 1000 Genomes Browser:
rs137854510
Molecular consequence:
  • NM_000433.4:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190789.2:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190794.2:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090881UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

PubMed [citation]
PMID:
20167518
PMCID:
PMC4568122

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023