NM_000397.4(CYBB):c.164C>A (p.Ala55Asp) 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:: RCV000059252.1

Allele description [Variation Report for NM_000397.4(CYBB):c.164C>A (p.Ala55Asp)]

NM_000397.4(CYBB):c.164C>A (p.Ala55Asp)

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.164C>A (p.Ala55Asp)

HGVS:

NC_000023.11:g.37783512C>A
NG_009065.1:g.8496C>A
NM_000397.4:c.164C>AMANE SELECT
NP_000388.2:p.Ala55Asp
NP_000388.2:p.Ala55Asp
LRG_53t1:c.164C>A
LRG_53:g.8496C>A
LRG_53p1:p.Ala55Asp
NC_000023.10:g.37642765C>A
NM_000397.3:c.164C>A
P04839:p.Ala55Asp

Protein change:

A55D

Links:

UniProtKB: P04839#VAR_025615; UniProtKB/Swiss-Prot: VAR_025615; dbSNP: rs151344480

NCBI 1000 Genomes Browser:

rs151344480

Molecular consequence:

NM_000397.4:c.164C>A - 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
SCV000090781	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (2) [See all records that cite these PMIDs] 10914676, 9667376

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090781

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (2)
[See all records that cite these PMIDs]

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

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S.

Hum Genet. 2000 May;106(5):473-81.

PubMed [citation]

PMID:: 10914676

Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.

Ariga T, Furuta H, Cho K, Sakiyama Y.

Pediatr Res. 1998 Jul;44(1):85-92.

PubMed [citation]

PMID:: 9667376

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090781.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

#	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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