chr6:26091306:T>C 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	chr6:26,091,306-26,091,306
hg38	chr6:26,091,078-26,091,078 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.314T>C	NP_620573.1:p.Ile105Thr
	NM_139003.2:c.314T>C	NP_620572.1:p.Ile105Thr
	NM_139007.2:c.77-236T>C
	NM_139008.2:c.77-236T>C
	NM_139011.2:c.77-2041T>C
	NM_139010.2:c.77-1607T>C
	NM_000410.3:c.314T>C	NP_000401.1:p.Ile105Thr
	NM_001300749.1:c.314T>C	NP_001287678.1:p.Ile105Thr
	NM_139009.2:c.245T>C	NP_620578.1:p.Ile82Thr
	NM_139006.2:c.314T>C	NP_620575.1:p.Ile105Thr
Ensemble	ENST00000309234.11:c.314T>C	ENST00000309234.11:p.Ile105Thr
	ENST00000317896.11:c.314T>C	ENST00000317896.11:p.Ile105Thr
	ENST00000336625.12:c.314T>C	ENST00000336625.12:p.Ile105Thr
	ENST00000349999.8:c.77-236T>C
	ENST00000352392.8:c.77-2041T>C
	ENST00000353147.9:c.77-1607T>C
	ENST00000357618.10:c.314T>C	ENST00000357618.10:p.Ile105Thr
	ENST00000397022.7:c.245T>C	ENST00000397022.7:p.Ile82Thr
	ENST00000461397.6:c.314T>C	ENST00000461397.6:p.Ile105Thr
	ENST00000470149.5:c.314T>C	ENST00000470149.5:p.Ile105Thr
	ENST00000485729.2:c.314T>C	ENST00000485729.2:p.Ile105Thr
	ENST00000488199.5:c.77-236T>C
	ENST00000714164.1:c.77-3108T>C
	ENST00000714170.1:c.212T>C	ENST00000714170.1:p.Ile71Thr
	ENST00000714172.1:c.314T>C	ENST00000714172.1:p.Ile105Thr
	ENST00000714174.1:c.314T>C	ENST00000714174.1:p.Ile105Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	1999-06-01	no assertion criteria provided	hemochromatosis type 1	germline	Detail
Uncertain significance	2021-08-25	criteria provided, single submitter	Hereditary hemochromatosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	hemochromatosis	Two novel missense mutations of the HFE gene (I105T and G93R) and identification...	BeFree	10575540	Detail
0.200	HEMOCHROMATOSIS, TYPE 1	Two novel missense mutations of the HFE gene (I105T and G93R) and identification...	UNIPROT	10575540	Detail
0.205	Hereditary hemochromatosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) AND Hemochromatosis type 1	ClinVar	Detail
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) AND Hereditary hemochromatosis	ClinVar	Detail
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio...	DisGeNET	Detail
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio...	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: rs28934596 dbSNP
Genome: hg19
Position: chr6:26,091,306-26,091,306
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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