chrX:154534345:C>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:153,762,560-153,762,560 View the variant detail on this assembly version.
hg38	chrX:154,534,345-154,534,345

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.637G>T	NP_000393.4:p.Val213Leu
	NM_001042351.2:c.637G>T	NP_001035810.1:p.Val213Leu
Ensemble	ENST00000369620.6:c.637G>T	ENST00000369620.6:p.Val213Leu
	ENST00000393562.10:c.637G>T	ENST00000393562.10:p.Val213Leu
	ENST00000393564.7:c.637G>T	ENST00000393564.7:p.Val213Leu
	ENST00000439227.6:c.640G>T	ENST00000439227.6:p.Val214Leu
	ENST00000696420.1:c.637G>T	ENST00000696420.1:p.Val213Leu
	ENST00000696421.1:c.637G>T	ENST00000696421.1:p.Val213Leu
	ENST00000696429.1:c.637G>T	ENST00000696429.1:p.Val213Leu
	ENST00000696430.1:c.637G>T	ENST00000696430.1:p.Val213Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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
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 Likely pathogenic	2022-09-08	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline unknown	Detail
Pathogenic Likely pathogenic	2021-11-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2021-12-08	criteria provided, single submitter		unknown	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
0.240	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND G6PD GASTONIA	ClinVar	Detail
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND G6PD MARION	ClinVar	Detail
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND G6PD MINNESOTA	ClinVar	Detail
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc...	ClinVar	Detail
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND not provided	ClinVar	Detail
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) AND Abnormal circulating glucose-6-phosphate dehydrogenase ...	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
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: rs137852326 dbSNP
Genome: hg38
Position: chrX:154,534,345-154,534,345
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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