chrX:154535277:T>C 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:153,763,492-153,763,492 View the variant detail on this assembly version.
hg38	chrX:154,535,277-154,535,277

HGVS

G6PD

Type	Transcript	Protein
RefSeq	NM_000402.4:c.376A>G	NP_000393.4:p.Asn126Asp
	NM_001042351.2:c.376A>G	NP_001035810.1:p.Asn126Asp
Ensemble	ENST00000369620.6:c.376A>G	ENST00000369620.6:p.Asn126Asp
	ENST00000393562.10:c.376A>G	ENST00000393562.10:p.Asn126Asp
	ENST00000393564.7:c.376A>G	ENST00000393564.7:p.Asn126Asp
	ENST00000439227.6:c.376A>G	ENST00000439227.6:p.Asn126Asp
	ENST00000696420.1:c.376A>G	ENST00000696420.1:p.Asn126Asp
	ENST00000696421.1:c.376A>G	ENST00000696421.1:p.Asn126Asp
	ENST00000696429.1:c.376A>G	ENST00000696429.1:p.Asn126Asp
	ENST00000696430.1:c.376A>G	ENST00000696430.1:p.Asn126Asp

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	tgv417454650	TogoVar
	COSMIC	COSM4985372	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
other	2018-05-11	no assertion criteria provided		germline	Detail
Pathogenic	2000-03-31	no assertion criteria provided	G6PD deficiency	germline	Detail
other	2017-05-24	no assertion criteria provided		germline	Detail
Conflicting interpretations of pathogenicity	2023-11-28	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Conflicting interpretations of pathogenicity	2024-02-02	criteria provided, conflicting interpretations	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	germline maternal unknown	Detail
Likely benign	2016-06-14	criteria provided, single submitter	G6PD deficiency	germline	Detail
Pathogenic	2015-12-29	no assertion criteria provided	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to	germline	Detail
Pathogenic	2015-12-29	no assertion criteria provided	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to	germline	Detail
Benign	2017-12-30	no assertion criteria provided	Bone mineral density quantitative trait locus 18	unknown	Detail
Likely benign	2021-04-08	criteria provided, single submitter	not specified	germline	Detail
Pathogenic		criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency	germline	Detail
Pathogenic		criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency	germline	Detail
Pathogenic	2023-11-20	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-08-12	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	maternal germline	Detail
Likely pathogenic Established risk allele	2022-12-23	criteria provided, multiple submitters, no conflicts	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	inherited unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Uncertain significance	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Uncertain significance	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Uncertain significance	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail
Likely pathogenic	2022-08-12	criteria provided, single submitter	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.012	anemia	Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54...	BeFree	24934404	Detail
<0.001	anemia	Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54...	BeFree	24934404	Detail
<0.001	anemia	Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs54...	BeFree	24934404	Detail
0.240	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	NA	CLINVAR		Detail
0.240	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations...	UNIPROT	9452072	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND G6PD A+	ClinVar	Detail
G6PD A- AND G6PD deficiency	ClinVar	Detail
NM_001042351.1(G6PD):c.[376A>G;542A>T] AND G6PD SANTAMARIA	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND not provided	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Anemia, nonspherocytic hemolytic, due to G6PD deficienc...	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND G6PD deficiency	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Bone mineral density quantitative trait locus 18	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND not specified	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND multiple conditions	ClinVar	Detail
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) AND Inborn genetic diseases	ClinVar	Detail
NM_001360016.2(G6PD):c.[376A>G;968T>C] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
G6PD A- AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001042351.1(G6PD):c.[376A>G;542A>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.[376A>G;871G>A] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.[1159C>T;376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G] AND Anemia, nonspherocytic hemolytic, due to G6PD defi...	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.[202G>A;376A>G563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD defic...	ClinVar	Detail
NM_001360016.2(G6PD):c.[376A>G;563C>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.[376A>G;463C>G] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
NM_001360016.2(G6PD):c.[376A>G;680G>T] AND Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge...	DisGeNET	Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge...	DisGeNET	Detail
Meanwhile, individuals with the EMR1 rs373533 GT, EMR1 rs461645 CT and RTN3 rs542998 (additive C) ge...	DisGeNET	Detail
NA	DisGeNET	Detail
G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G...	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: rs1050829 dbSNP
Genome: hg38
Position: chrX:154,535,277-154,535,277
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 6633
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): 87435
Allele Counts in All Race (ExAC): 2840
Heterozygous Counts in All Race (ExAC): 1519
Homozygous Counts in All Race (ExAC): 354
Allele Frequency in All Race (ExAC): 0.03248127180190999
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 613

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