chr16:88709978:G>A Detail (hg19) (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	chr16:88,709,978-88,709,978
hg38	chr16:88,643,570-88,643,570 View the variant detail on this assembly version.

HGVS

CYBA

Type	Transcript	Protein
RefSeq	NM_000101.3:c.371C>T	NP_000092.2:p.Ala124Val
Ensemble	ENST00000261623.8:c.371C>T	ENST00000261623.8:p.Ala124Val
	ENST00000696156.1:c.287C>T	ENST00000696156.1:p.Ala96Val
	ENST00000696157.1:c.*588C>T
	ENST00000696158.1:c.*625C>T
	ENST00000696159.1:c.*294C>T
	ENST00000696160.1:c.398C>T	ENST00000696160.1:p.Ala133Val
	ENST00000696161.1:c.501C>T	ENST00000696161.1:p.Gly167=
	ENST00000696162.1:c.*1090C>T
	ENST00000696163.1:c.320C>T	ENST00000696163.1:p.Ala107Val

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail
Likely pathogenic	2024-01-03	criteria provided, single submitter	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	Detail
Pathogenic	2024-03-25	criteria provided, single submitter	chronic granulomatous disease	germline	Detail
Pathogenic	2024-03-25	criteria provided, single submitter	Polyglandular autoimmune syndrome, type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Clinical, functional, and genetic characterization of chronic granulomatous dise...	UNIPROT	23910690	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND not provided	ClinVar	Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Granulomatous disease, chronic, autosomal recessive, cy...	ClinVar	Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Chronic granulomatous disease	ClinVar	Detail
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) AND Polyglandular autoimmune syndrome, type 1	ClinVar	Detail
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish pa...	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: rs179363894 dbSNP
Genome: hg19
Position: chr16:88,709,978-88,709,978
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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