chrX:154532945:C>G Detail (hg38) (G6PD)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chrX:153,761,160-153,761,160 View the variant detail on this assembly version.
hg38	chrX:154,532,945-154,532,945

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.1048G>C	NP_000393.4:p.Asp350His
	NM_001042351.2:c.1048G>C	NP_001035810.1:p.Asp350His
Ensemble	ENST00000369620.6:c.1186G>C	ENST00000369620.6:p.Asp396His
	ENST00000393562.10:c.1048G>C	ENST00000393562.10:p.Asp350His
	ENST00000393564.7:c.1048G>C	ENST00000393564.7:p.Asp350His
	ENST00000439227.6:c.1051G>C	ENST00000439227.6:p.Asp351His
	ENST00000696420.1:c.1048G>C	ENST00000696420.1:p.Asp350His
	ENST00000696421.1:c.1048G>C	ENST00000696421.1:p.Asp350His
	ENST00000696429.1:c.1048G>C	ENST00000696429.1:p.Asp350His
	ENST00000696430.1:c.1048G>C	ENST00000696430.1:p.Asp350His

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:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	tgv417454562	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2022-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2017-04-28	criteria provided, single submitter	G6PD deficiency	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-13	criteria provided, conflicting interpretations	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely benign	2022-12-12	criteria provided, single submitter	not specified	germline	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_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND not provided	ClinVar	Detail
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND Anemia, nonspherocytic hemolytic, due to G6PD defic...	ClinVar	Detail
NM_001360016.2(G6PD):c.[1048G>C;406C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) AND not specified	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: rs34193178 dbSNP
Genome: hg38
Position: chrX:154,532,945-154,532,945
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 6631
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 87567
Allele Counts in All Race (ExAC): 33
Heterozygous Counts in All Race (ExAC): 25
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.768542944259824E-4
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 8

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