chrX:154532956:T>A Detail (hg38) (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:153,761,171-153,761,171 View the variant detail on this assembly version.
hg38	chrX:154,532,956-154,532,956

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1037A>T	NP_000393.4:p.Asn346Ile
	NM_001042351.2:c.1037A>T	NP_001035810.1:p.Asn346Ile
Ensemble	ENST00000369620.6:c.1175A>T	ENST00000369620.6:p.Asn392Ile
	ENST00000393562.10:c.1037A>T	ENST00000393562.10:p.Asn346Ile
	ENST00000393564.7:c.1037A>T	ENST00000393564.7:p.Asn346Ile
	ENST00000439227.6:c.1040A>T	ENST00000439227.6:p.Asn347Ile
	ENST00000696420.1:c.1037A>T	ENST00000696420.1:p.Asn346Ile
	ENST00000696421.1:c.1037A>T	ENST00000696421.1:p.Asn346Ile
	ENST00000696429.1:c.1037A>T	ENST00000696429.1:p.Asn346Ile
	ENST00000696430.1:c.1037A>T	ENST00000696430.1:p.Asn346Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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
Uncertain significance	2012-09-14	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	maternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Cholestasis in newborn	We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we pr...	BeFree	20949590	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001360016.2(G6PD):c.1037A>T (p.Asn346Ile) AND not provided	ClinVar	Detail
NM_001360016.2(G6PD):c.[1037A>T;637G>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD C...	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: rs398123544 dbSNP
Genome: hg38
Position: chrX:154,532,956-154,532,956
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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