chr6:26093125:G>A Detail (hg19) (HFE)

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

Genome

Assembly	Position
hg19	chr6:26,093,125-26,093,125
hg38	chr6:26,092,897-26,092,897 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.553G>A	NP_620573.1:p.Glu185Lys
	NM_139003.2:c.511G>A	NP_620572.1:p.Glu171Lys
	NM_139007.2:c.565G>A	NP_620576.1:p.Glu189Lys
	NM_139008.2:c.565G>A	NP_620577.1:p.Glu189Lys
	NM_139011.2:c.77-222G>A
	NM_139010.2:c.289G>A	NP_620579.1:p.Glu97Lys
	NM_000410.3:c.829G>A	NP_000401.1:p.Glu277Lys
	NM_001300749.1:c.829G>A	NP_001287678.1:p.Glu277Lys
	NM_139009.2:c.760G>A	NP_620578.1:p.Glu254Lys
	NM_139006.2:c.787G>A	NP_620575.1:p.Glu263Lys
Ensemble	ENST00000309234.11:c.829G>A	ENST00000309234.11:p.Glu277Lys
	ENST00000317896.11:c.553G>A	ENST00000317896.11:p.Glu185Lys
	ENST00000336625.12:c.511G>A	ENST00000336625.12:p.Glu171Lys
	ENST00000349999.8:c.565G>A	ENST00000349999.8:p.Glu189Lys
	ENST00000352392.8:c.77-222G>A
	ENST00000353147.9:c.289G>A	ENST00000353147.9:p.Glu97Lys
	ENST00000357618.10:c.829G>A	ENST00000357618.10:p.Glu277Lys
	ENST00000397022.7:c.760G>A	ENST00000397022.7:p.Glu254Lys
	ENST00000461397.6:c.787G>A	ENST00000461397.6:p.Glu263Lys
	ENST00000470149.5:c.820G>A	ENST00000470149.5:p.Glu274Lys
	ENST00000485729.2:c.829G>A	ENST00000485729.2:p.Glu277Lys
	ENST00000488199.5:c.523G>A	ENST00000488199.5:p.Glu175Lys
	ENST00000714164.1:c.77-1289G>A
	ENST00000714170.1:c.727G>A	ENST00000714170.1:p.Glu243Lys
	ENST00000714172.1:c.553G>A	ENST00000714172.1:p.Glu185Lys
	ENST00000714174.1:c.429-222G>A

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

HFE

Type	Database	ID	Link
Gene	MIM	613609	OMIM
	HGNC	4886	HGNC
	Ensembl	ENSG00000010704	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
Uncertain significance	2016-08-03	criteria provided, single submitter	hemochromatosis type 1	germline	Detail
Conflicting interpretations of pathogenicity	2024-04-01	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely benign	2024-01-31	criteria provided, single submitter	Hereditary hemochromatosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	Cooley's anemia	Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-th...	BeFree	15570296	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) AND Hemochromatosis type 1	ClinVar	Detail
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) AND not provided	ClinVar	Detail
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) AND Hereditary hemochromatosis	ClinVar	Detail
Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and ...	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: rs140080192 dbSNP
Genome: hg19
Position: chr6:26,093,125-26,093,125
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121406
Allele Counts in All Race (ExAC): 474
Heterozygous Counts in All Race (ExAC): 448
Homozygous Counts in All Race (ExAC): 13
Allele Frequency in All Race (ExAC): 0.003904255143897336

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