chr6:26093443:G>T 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	chr6:26,093,443-26,093,443
hg38	chr6:26,093,215-26,093,215 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.713G>T	NP_620573.1:p.Arg238Met
	NM_139003.2:c.671G>T	NP_620572.1:p.Arg224Met
	NM_139007.2:c.725G>T	NP_620576.1:p.Arg242Met
	NM_139008.2:c.725G>T	NP_620577.1:p.Arg242Met
	NM_139011.2:c.173G>T	NP_620580.1:p.Arg58Met
	NM_139010.2:c.449G>T	NP_620579.1:p.Arg150Met
	NM_000410.3:c.989G>T	NP_000401.1:p.Arg330Met
	NM_001300749.1:c.989G>T	NP_001287678.1:p.Arg330Met
	NM_139009.2:c.920G>T	NP_620578.1:p.Arg307Met
	NM_139006.2:c.947G>T	NP_620575.1:p.Arg316Met
Ensemble	ENST00000309234.11:c.989G>T	ENST00000309234.11:p.Arg330Met
	ENST00000317896.11:c.713G>T	ENST00000317896.11:p.Arg238Met
	ENST00000336625.12:c.671G>T	ENST00000336625.12:p.Arg224Met
	ENST00000349999.8:c.725G>T	ENST00000349999.8:p.Arg242Met
	ENST00000352392.8:c.173G>T	ENST00000352392.8:p.Arg58Met
	ENST00000353147.9:c.449G>T	ENST00000353147.9:p.Arg150Met
	ENST00000357618.10:c.989G>T	ENST00000357618.10:p.Arg330Met
	ENST00000397022.7:c.920G>T	ENST00000397022.7:p.Arg307Met
	ENST00000461397.6:c.947G>T	ENST00000461397.6:p.Arg316Met
	ENST00000470149.5:c.980G>T	ENST00000470149.5:p.Arg327Met
	ENST00000485729.2:c.989G>T	ENST00000485729.2:p.Arg330Met
	ENST00000488199.5:c.683G>T	ENST00000488199.5:p.Arg228Met
	ENST00000714164.1:c.77-971G>T
	ENST00000714170.1:c.887G>T	ENST00000714170.1:p.Arg296Met
	ENST00000714172.1:c.713G>T	ENST00000714172.1:p.Arg238Met
	ENST00000714174.1:c.525G>T	ENST00000714174.1:p.Lys175Asn

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
0.205	Hereditary hemochromatosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000410.4(HFE):c.989G>T (p.Arg330Met) AND Hemochromatosis type 1	ClinVar	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: rs111033558 dbSNP
Genome: hg19
Position: chr6:26,093,443-26,093,443
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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