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NM_000397.4(CYBB):c.58G>C (p.Gly20Arg) AND not provided

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:
RCV000059263.1

Allele description [Variation Report for NM_000397.4(CYBB):c.58G>C (p.Gly20Arg)]

NM_000397.4(CYBB):c.58G>C (p.Gly20Arg)

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg)
HGVS:
  • NC_000023.11:g.37782100G>C
  • NG_009065.1:g.7084G>C
  • NM_000397.4:c.58G>CMANE SELECT
  • NP_000388.2:p.Gly20Arg
  • NP_000388.2:p.Gly20Arg
  • LRG_53t1:c.58G>C
  • LRG_53:g.7084G>C
  • LRG_53p1:p.Gly20Arg
  • NC_000023.10:g.37641353G>C
  • NM_000397.3:c.58G>C
  • P04839:p.Gly20Arg
Protein change:
G20R
Links:
UniProtKB: P04839#VAR_007873; UniProtKB/Swiss-Prot: VAR_007873; dbSNP: rs151344455
NCBI 1000 Genomes Browser:
rs151344455
Molecular consequence:
  • NM_000397.4:c.58G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090792UniProtKB/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

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT.

Am J Hum Genet. 1998 Jun;62(6):1320-31.

PubMed [citation]
PMID:
9585602
PMCID:
PMC1377153

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090792.1

#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: Apr 23, 2022