chrX:153763557:C>T Detail (hg19) (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:153,763,557-153,763,557
hg38	chrX:154,535,342-154,535,342 View the variant detail on this assembly version.

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.311G>A	NP_000393.4:p.Arg104His
	NM_001042351.2:c.311G>A	NP_001035810.1:p.Arg104His
Ensemble	ENST00000369620.6:c.311G>A	ENST00000369620.6:p.Arg104His
	ENST00000393562.10:c.311G>A	ENST00000393562.10:p.Arg104His
	ENST00000439227.6:c.311G>A	ENST00000439227.6:p.Arg104His
	ENST00000393564.7:c.311G>A	ENST00000393564.7:p.Arg104His
	ENST00000696420.1:c.311G>A	ENST00000696420.1:p.Arg104His
	ENST00000696421.1:c.311G>A	ENST00000696421.1:p.Arg104His
	ENST00000696429.1:c.311G>A	ENST00000696429.1:p.Arg104His
	ENST00000696430.1:c.311G>A	ENST00000696430.1:p.Arg104His

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	Benign Likely benign
Review star
Show details

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	COSM6668345	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2023-11-24	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline unknown	Detail
Uncertain significance	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely benign	2021-06-01	criteria provided, single submitter	G6PD-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) AND Anemia, nonspherocytic hemolytic, due to G6PD defici...	ClinVar	Detail
NM_001360016.2(G6PD):c.[311G>A;376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) AND G6PD-related disorder	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: rs181277621 dbSNP
Genome: hg19
Position: chrX:153,763,557-153,763,557
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 6370
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): 82989
Allele Counts in All Race (ExAC): 101
Heterozygous Counts in All Race (ExAC): 59
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0012170287628480883
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 42

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