chr6:26091354:A>C Detail (hg38) (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	chr6:26,091,582-26,091,582 View the variant detail on this assembly version.
hg38	chr6:26,091,354-26,091,354

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.340+250A>C
	NM_139003.2:c.340+250A>C
	NM_139007.2:c.117A>C	NP_620576.1:p.Gln39His
	NM_139008.2:c.117A>C	NP_620577.1:p.Gln39His
	NM_139011.2:c.77-1765A>C
	NM_139010.2:c.77-1331A>C
	NM_000410.3:c.381A>C	NP_000401.1:p.Gln127His
	NM_001300749.1:c.381A>C	NP_001287678.1:p.Gln127His
	NM_139009.2:c.312A>C	NP_620578.1:p.Gln104His
	NM_139006.2:c.381A>C	NP_620575.1:p.Gln127His
Ensemble	ENST00000309234.11:c.381A>C	ENST00000309234.11:p.Gln127His
	ENST00000317896.11:c.340+250A>C
	ENST00000336625.12:c.340+250A>C
	ENST00000349999.8:c.117A>C	ENST00000349999.8:p.Gln39His
	ENST00000352392.8:c.77-1765A>C
	ENST00000353147.9:c.77-1331A>C
	ENST00000357618.10:c.381A>C	ENST00000357618.10:p.Gln127His
	ENST00000397022.7:c.312A>C	ENST00000397022.7:p.Gln104His
	ENST00000461397.6:c.381A>C	ENST00000461397.6:p.Gln127His
	ENST00000470149.5:c.381A>C	ENST00000470149.5:p.Gln127His
	ENST00000485729.2:c.381A>C	ENST00000485729.2:p.Gln127His
	ENST00000488199.5:c.117A>C	ENST00000488199.5:p.Gln39His
	ENST00000714164.1:c.77-2832A>C
	ENST00000714170.1:c.279A>C	ENST00000714170.1:p.Gln93His
	ENST00000714172.1:c.340+250A>C
	ENST00000714174.1:c.428+162A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	1999-08-01	no assertion criteria provided	hemochromatosis type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.458	variegate porphyria	Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63...	BeFree	10401000	Detail
<0.001	variegate porphyria	Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63...	BeFree	10401000	Detail
0.200	HEMOCHROMATOSIS, TYPE 1	Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyr...	UNIPROT	10401000	Detail
<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
0.205	Hereditary hemochromatosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000410.4(HFE):c.381A>C (p.Gln127His) AND Hemochromatosis type 1	ClinVar	Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s...	DisGeNET	Detail
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s...	DisGeNET	Detail
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.	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
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H...	DisGeNET	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: rs28934595 dbSNP
Genome: hg38
Position: chr6:26,091,354-26,091,354
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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