NM_000397.4(CYBB):c.162G>C (p.Arg54Ser) 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:: RCV000059250.1

Allele description [Variation Report for NM_000397.4(CYBB):c.162G>C (p.Arg54Ser)]

NM_000397.4(CYBB):c.162G>C (p.Arg54Ser)

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.162G>C (p.Arg54Ser)

HGVS:

NC_000023.11:g.37783510G>C
NG_009065.1:g.8494G>C
NM_000397.4:c.162G>CMANE SELECT
NP_000388.2:p.Arg54Ser
NP_000388.2:p.Arg54Ser
LRG_53t1:c.162G>C
LRG_53:g.8494G>C
LRG_53p1:p.Arg54Ser
NC_000023.10:g.37642763G>C
NM_000397.3:c.162G>C
P04839:p.Arg54Ser

Protein change:

R54S

Links:

UniProtKB: P04839#VAR_007874; UniProtKB/Swiss-Prot: VAR_007874; dbSNP: rs151344456

NCBI 1000 Genomes Browser:

rs151344456

Molecular consequence:

NM_000397.4:c.162G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090779	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090779

UniProtKB/Swiss-Prot

no classification provided

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature 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, SCV000090779.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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