chrX:154532403:C>G 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:153,760,618-153,760,618 View the variant detail on this assembly version.
hg38	chrX:154,532,403-154,532,403

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1347G>C	NP_000393.4:p.Gln449His
	NM_001042351.2:c.1347G>C	NP_001035810.1:p.Gln449His
Ensemble	ENST00000369620.6:c.1485G>C	ENST00000369620.6:p.Gln495His
	ENST00000393562.10:c.1347G>C	ENST00000393562.10:p.Gln449His
	ENST00000393564.7:c.1347G>C	ENST00000393564.7:p.Gln449His
	ENST00000439227.6:c.1350G>C	ENST00000439227.6:p.Gln450His
	ENST00000696420.1:c.1347G>C	ENST00000696420.1:p.Gln449His
	ENST00000696421.1:c.1347G>C	ENST00000696421.1:p.Gln449His
	ENST00000696429.1:c.1347G>C	ENST00000696429.1:p.Gln449His
	ENST00000696430.1:c.1347G>C	ENST00000696430.1:p.Gln449His

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
Pathogenic Likely pathogenic	2022-11-23	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Pathogenic	2023-09-05	criteria provided, single submitter	Malaria, susceptibility to	unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) AND Anemia, nonspherocytic hemolytic, due to G6PD defic...	ClinVar	Detail
NM_001360016.2(G6PD):c.[1347G>C;1360C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc...	ClinVar	Detail
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) AND Malaria, susceptibility to	ClinVar	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: rs1557229572 dbSNP
Genome: hg38
Position: chrX:154,532,403-154,532,403
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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