chr16:88712539:G>T Detail (hg19) (CYBA)

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

Information

Genome

Assembly	Position
hg19	chr16:88,712,539-88,712,539
hg38	chr16:88,646,131-88,646,131 View the variant detail on this assembly version.

HGVS

CYBA

Type	Transcript	Protein
RefSeq	NM_000101.3:c.354C>A	NP_000092.2:p.Ser118Arg
Ensemble	ENST00000696156.1:c.270C>A	ENST00000696156.1:p.Ser90Arg
	ENST00000261623.8:c.354C>A	ENST00000261623.8:p.Ser118Arg
	ENST00000696158.1:c.354C>A	ENST00000696158.1:p.Ser118Arg
	ENST00000569359.5:c.354C>A	ENST00000569359.5:p.Ser118Arg
	ENST00000696162.1:c.354C>A	ENST00000696162.1:p.Ser118Arg
	ENST00000696157.1:c.354C>A	ENST00000696157.1:p.Ser118Arg
	ENST00000696161.1:c.484C>A	ENST00000696161.1:p.Arg162=
	ENST00000696159.1:c.354C>A	ENST00000696159.1:p.Ser118Arg
	ENST00000567174.5:c.354C>A	ENST00000567174.5:p.Ser118Arg
	ENST00000696160.1:c.354C>A	ENST00000696160.1:p.Ser118Arg
	ENST00000696163.1:c.303C>A	ENST00000696163.1:p.Ser101Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:<0.001
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	tgv56585181	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2024-01-11	criteria provided, single submitter	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	Detail
not provided		no assertion provided	not provided	germline	Detail
Pathogenic	2021-09-21	criteria provided, single submitter	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
0.360	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	Molecular analysis of 9 new families with chronic granulomatous disease caused b...	UNIPROT	10910929	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cy...	ClinVar	Detail
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND not provided	ClinVar	Detail
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND Chronic granulomatous disease	ClinVar	Detail
NA	DisGeNET	Detail
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA,...	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: rs104894514 dbSNP
Genome: hg19
Position: chr16:88,712,539-88,712,539
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 878
Mean of sample read depth (HGVD): 16.33
Standard deviation of sample read depth (HGVD): 7.08
Number of reference allele (HGVD): 1754
Number of alternative allele (HGVD): 1
Allele Frequency (HGVD): 5.698005698005698E-4
Gene Symbol (HGVD): CYBA

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