chrX:153760649:C>T Detail (hg19) (G6PD)

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

Genome

Assembly	Position
hg19	chrX:153,760,649-153,760,649
hg38	chrX:154,532,434-154,532,434 View the variant detail on this assembly version.

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1316G>A	NP_000393.4:p.Arg439His
	NM_001042351.2:c.1316G>A	NP_001035810.1:p.Arg439His
Ensemble	ENST00000369620.6:c.1454G>A	ENST00000369620.6:p.Arg485His
	ENST00000393562.10:c.1316G>A	ENST00000393562.10:p.Arg439His
	ENST00000393564.7:c.1316G>A	ENST00000393564.7:p.Arg439His
	ENST00000439227.6:c.1319G>A	ENST00000439227.6:p.Arg440His
	ENST00000696420.1:c.1316G>A	ENST00000696420.1:p.Arg439His
	ENST00000696421.1:c.1316G>A	ENST00000696421.1:p.Arg439His
	ENST00000696429.1:c.1316G>A	ENST00000696429.1:p.Arg439His
	ENST00000696430.1:c.1316G>A	ENST00000696430.1:p.Arg439His

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
Review star	[No Data.]
Show details

Links

G6PD

Type	Database	ID	Link
Gene	MIM	305900	OMIM
	HGNC	4057	HGNC
	Ensembl	ENSG00000160211	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: -
Genome: hg19
Position: chrX:153,760,649-153,760,649
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6592
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): 86325
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 0
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1584129742253114E-5
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 1

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