NM_000101.3(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1990)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002347.2

Allele description

NM_000101.3(CYBA):c.354C>A (p.Ser118Arg)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.3(CYBA):c.354C>A (p.Ser118Arg)
HGVS:
  • NC_000016.10:g.88646131G>T
  • NG_007291.1:g.9919C>A
  • NM_000101.3:c.354C>A
  • NP_000092.2:p.Ser118Arg
  • LRG_52:g.9919C>A
  • LRG_52p1:p.Ser118Arg
  • NC_000016.9:g.88712539G>T
  • NM_000101.2:c.354C>A
  • P13498:p.Ser118Arg
Protein change:
S118R; SER118ARG
Links:
UniProtKB: P13498#VAR_005125; UniProtKB/Swiss-Prot: VAR_005125; OMIM: 608508.0004; dbSNP: rs104894514
GMAF:
0.0004(A), 104894514
NCBI 1000 Genomes Browser:
rs104894514
Molecular consequence:
  • NM_000101.3:c.354C>A - missense variant - [Sequence Ontology: SO:0001583]

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
Identifiers:
MedGen: C1856255; Orphanet: 379; OMIM: 233690

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022505OMIMno assertion criteria providedPathogenic
(Nov 1, 1990)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.

Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin SH.

J Clin Invest. 1990 Nov;86(5):1729-37.

PubMed [citation]
PMID:
2243141
PMCID:
PMC296926

Details of each submission

From OMIM, SCV000022505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with autosomal recessive cytochrome b-negative CGD (233690), whose parents were second cousins, Dinauer et al. (1990) found homozygosity for a 382C-A transversion, resulting in a ser118-to-arg (S118R) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 1, 2018