chrX:153760472: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:153,760,472-153,760,472
hg38	chrX:154,532,257-154,532,257 View the variant detail on this assembly version.

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1388G>A	NP_000393.4:p.Arg463His
	NM_001042351.2:c.1388G>A	NP_001035810.1:p.Arg463His
Ensemble	ENST00000369620.6:c.1526G>A	ENST00000369620.6:p.Arg509His
	ENST00000393562.10:c.1388G>A	ENST00000393562.10:p.Arg463His
	ENST00000393564.7:c.1388G>A	ENST00000393564.7:p.Arg463His
	ENST00000439227.6:c.1391G>A	ENST00000439227.6:p.Arg464His
	ENST00000696420.1:c.1388G>A	ENST00000696420.1:p.Arg463His
	ENST00000696421.1:c.1388G>A	ENST00000696421.1:p.Arg463His
	ENST00000696429.1:c.1388G>A	ENST00000696429.1:p.Arg463His
	ENST00000696430.1:c.1388G>A	ENST00000696430.1:p.Arg463His

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:0.005

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
other	2017-05-24	no assertion criteria provided		germline	Detail
other	2017-05-24	no assertion criteria provided		germline	Detail
other	2017-05-24	no assertion criteria provided		germline	Detail
other	2017-05-24	no assertion criteria provided		germline	Detail
other	2017-05-24	no assertion criteria provided		germline	Detail
Pathogenic	2023-09-05	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to	unknown	Detail
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline inherited	Detail
Pathogenic	2023-04-25	criteria provided, single submitter	G6PD deficiency	germline unknown	Detail
Pathogenic	2016-06-10	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-10-26	criteria provided, single submitter	Malaria, susceptibility to	unknown	Detail

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
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD KAIPING	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD ANANT	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD DHON	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD PETRICH-LIKE	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD SAPPORO-LIKE	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND not provided	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien...	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND G6PD deficiency	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND Inborn genetic diseases	ClinVar	Detail
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) AND Malaria, susceptibility to	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: rs72554664 dbSNP
Genome: hg19
Position: chrX:153,760,472-153,760,472
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6390
East Asian Allele Counts (ExAC): 35
East Asian Heterozygous Counts (ExAC): 26
East Asian Homozygous Counts (ExAC): 1
East Asian Allele Frequency (ExAC): 0.005477308294209703
Chromosome Counts in All Race (ExAC): 82701
Allele Counts in All Race (ExAC): 37
Heterozygous Counts in All Race (ExAC): 27
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 4.47394831985103E-4
East Asian Hemizygous Counts (ExAC): 7
Hemizygous Counts in All Race (ExAC): 8

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