chr6:26091149:G>A Detail (hg19) (HFE, HFE-AS1)

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

Information

Genome

Assembly	Position
hg19	chr6:26,091,149-26,091,149
hg38	chr6:26,090,921-26,090,921 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.157G>A	NP_620573.1:p.Val53Met
	NM_139003.2:c.157G>A	NP_620572.1:p.Val53Met
	NM_139007.2:c.77-393G>A
	NM_139008.2:c.77-393G>A
	NM_139011.2:c.77-2198G>A
	NM_139010.2:c.77-1764G>A
	NM_000410.3:c.157G>A	NP_000401.1:p.Val53Met
	NM_001300749.1:c.157G>A	NP_001287678.1:p.Val53Met
	NM_139009.2:c.88G>A	NP_620578.1:p.Val30Met
	NM_139006.2:c.157G>A	NP_620575.1:p.Val53Met
Ensemble	ENST00000309234.11:c.157G>A	ENST00000309234.11:p.Val53Met
	ENST00000317896.11:c.157G>A	ENST00000317896.11:p.Val53Met
	ENST00000336625.12:c.157G>A	ENST00000336625.12:p.Val53Met
	ENST00000349999.8:c.77-393G>A
	ENST00000352392.8:c.77-2198G>A
	ENST00000353147.9:c.77-1764G>A
	ENST00000357618.10:c.157G>A	ENST00000357618.10:p.Val53Met
	ENST00000397022.7:c.88G>A	ENST00000397022.7:p.Val30Met
	ENST00000461397.6:c.157G>A	ENST00000461397.6:p.Val53Met
	ENST00000470149.5:c.157G>A	ENST00000470149.5:p.Val53Met
	ENST00000485729.2:c.157G>A	ENST00000485729.2:p.Val53Met
	ENST00000488199.5:c.77-393G>A
	ENST00000714164.1:c.77-3265G>A
	ENST00000714170.1:c.55G>A	ENST00000714170.1:p.Val19Met
	ENST00000714172.1:c.157G>A	ENST00000714172.1:p.Val53Met
	ENST00000714174.1:c.157G>A	ENST00000714174.1:p.Val53Met

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	Uncertain significance
Review star
Show details

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	COSM1442585	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	1999-08-01	no assertion criteria provided	HFE POLYMORPHISM	germline	Detail
Uncertain significance	2018-07-16	criteria provided, single submitter	hemochromatosis type 1	paternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Acute lymphocytic leukemia	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail
0.009	Precursor Cell Lymphoblastic Leukemia Lymphoma	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail
<0.001	Leukemia, Myelocytic, Acute	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail
<0.001	Precursor Cell Lymphoblastic Leukemia Lymphoma	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail
0.001	Leukemia, Myelocytic, Acute	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail
<0.001	Acute lymphocytic leukemia	We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (...	BeFree	15863206	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000410.4(HFE):c.157G>A (p.Val53Met) AND HFE POLYMORPHISM	ClinVar	Detail
NM_000410.4(HFE):c.157G>A (p.Val53Met) AND Hemochromatosis type 1	ClinVar	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	Detail
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	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: rs28934889 dbSNP
Genome: hg19
Position: chr6:26,091,149-26,091,149
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): 121410
Allele Counts in All Race (ExAC): 7
Heterozygous Counts in All Race (ExAC): 7
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.765587678115476E-5

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