chrX:154532411:C>T 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:153,760,626-153,760,626 View the variant detail on this assembly version.
hg38	chrX:154,532,411-154,532,411

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1339G>A	NP_000393.4:p.Gly447Arg
	NM_001042351.2:c.1339G>A	NP_001035810.1:p.Gly447Arg
Ensemble	ENST00000369620.6:c.1477G>A	ENST00000369620.6:p.Gly493Arg
	ENST00000393562.10:c.1339G>A	ENST00000393562.10:p.Gly447Arg
	ENST00000393564.7:c.1339G>A	ENST00000393564.7:p.Gly447Arg
	ENST00000439227.6:c.1342G>A	ENST00000439227.6:p.Gly448Arg
	ENST00000696420.1:c.1339G>A	ENST00000696420.1:p.Gly447Arg
	ENST00000696421.1:c.1339G>A	ENST00000696421.1:p.Gly447Arg
	ENST00000696429.1:c.1339G>A	ENST00000696429.1:p.Gly447Arg
	ENST00000696430.1:c.1339G>A	ENST00000696430.1:p.Gly447Arg

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
Pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	de novo germline	Detail
Pathogenic	2013-10-18	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-05-03	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to	unknown	Detail
Likely pathogenic	2022-05-03	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,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.1429G>A (p.Gly477Arg) AND G6PD SANTIAGO DE CUBA	ClinVar	Detail
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien...	ClinVar	Detail
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) AND not provided	ClinVar	Detail
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) AND multiple conditions	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: rs137852317 dbSNP
Genome: hg38
Position: chrX:154,532,411-154,532,411
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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