chr16:88646774:G>A Detail (hg38) (CYBA)

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

Information

Genome

Assembly	Position
hg19	chr16:88,713,182-88,713,182 View the variant detail on this assembly version.
hg38	chr16:88,646,774-88,646,774

HGVS

CYBA

Type	Transcript	Protein
RefSeq	NM_000101.3:c.268C>T	NP_000092.2:p.Arg90Trp
Ensemble	ENST00000261623.8:c.268C>T	ENST00000261623.8:p.Arg90Trp
	ENST00000567174.5:c.268C>T	ENST00000567174.5:p.Arg90Trp
	ENST00000569359.5:c.268C>T	ENST00000569359.5:p.Arg90Trp
	ENST00000696156.1:c.203+327C>T
	ENST00000696157.1:c.268C>T	ENST00000696157.1:p.Arg90Trp
	ENST00000696158.1:c.268C>T	ENST00000696158.1:p.Arg90Trp
	ENST00000696159.1:c.268C>T	ENST00000696159.1:p.Arg90Trp
	ENST00000696160.1:c.268C>T	ENST00000696160.1:p.Arg90Trp
	ENST00000696161.1:c.398C>T	ENST00000696161.1:p.Ser133Leu
	ENST00000696162.1:c.268C>T	ENST00000696162.1:p.Arg90Trp
	ENST00000696163.1:c.217C>T	ENST00000696163.1:p.Arg73Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

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
	COSMIC	COSM974726	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	germline	Detail
Pathogenic	2021-11-12	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	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.268C>T (p.Arg90Trp) AND not provided	ClinVar	Detail
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) AND Granulomatous disease, chronic, autosomal recessive, cyt...	ClinVar	Detail
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) AND Chronic granulomatous disease	ClinVar	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: rs179363892 dbSNP
Genome: hg38
Position: chr16:88,646,774-88,646,774
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8618
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120636
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.3157598063596274E-5

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