chr16:88643474:G>T Detail (hg38) (CYBA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:88,709,882-88,709,882 View the variant detail on this assembly version.
hg38	chr16:88,643,474-88,643,474

HGVS

CYBA

Type	Transcript	Protein
RefSeq	NM_000101.3:c.467C>A	NP_000092.2:p.Pro156Gln
Ensemble	ENST00000261623.8:c.467C>A	ENST00000261623.8:p.Pro156Gln
	ENST00000696156.1:c.383C>A	ENST00000696156.1:p.Pro128Gln
	ENST00000696157.1:c.*684C>A
	ENST00000696158.1:c.*721C>A
	ENST00000696159.1:c.*390C>A
	ENST00000696160.1:c.494C>A	ENST00000696160.1:p.Pro165Gln
	ENST00000696161.1:c.597C>A	ENST00000696161.1:p.Pro199=
	ENST00000696162.1:c.*1186C>A
	ENST00000696163.1:c.416C>A	ENST00000696163.1:p.Pro139Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

CYBA

Type	Database	ID	Link
Gene	MIM	608508	OMIM
	HGNC	2577	HGNC
	Ensembl	ENSG00000051523	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1991-12-15	no assertion criteria provided	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	Detail
not provided		no assertion provided	chronic granulomatous disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) AND Granulomatous disease, chronic, autosomal recessive, cy...	ClinVar	Detail
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) AND Chronic granulomatous disease	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104894515 dbSNP
Genome: hg38
Position: chr16:88,643,474-88,643,474
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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