chr6:26091707: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	chr6:26,091,707-26,091,707
hg38	chr6:26,091,479-26,091,479 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.340+375G>A
	NM_139003.2:c.340+375G>A
	NM_139007.2:c.242G>A	NP_620576.1:p.Trp81Ter
	NM_139008.2:c.242G>A	NP_620577.1:p.Trp81Ter
	NM_139011.2:c.77-1640G>A
	NM_139010.2:c.77-1206G>A
	NM_000410.3:c.506G>A	NP_000401.1:p.Trp169Ter
	NM_001300749.1:c.506G>A	NP_001287678.1:p.Trp169Ter
	NM_139009.2:c.437G>A	NP_620578.1:p.Trp146Ter
	NM_139006.2:c.506G>A	NP_620575.1:p.Trp169Ter
Ensemble	ENST00000309234.11:c.506G>A	ENST00000309234.11:p.Trp169Ter
	ENST00000317896.11:c.340+375G>A
	ENST00000336625.12:c.340+375G>A
	ENST00000349999.8:c.242G>A	ENST00000349999.8:p.Trp81Ter
	ENST00000352392.8:c.77-1640G>A
	ENST00000353147.9:c.77-1206G>A
	ENST00000357618.10:c.506G>A	ENST00000357618.10:p.Trp169Ter
	ENST00000397022.7:c.437G>A	ENST00000397022.7:p.Trp146Ter
	ENST00000461397.6:c.506G>A	ENST00000461397.6:p.Trp169Ter
	ENST00000470149.5:c.506G>A	ENST00000470149.5:p.Trp169Ter
	ENST00000485729.2:c.506G>A	ENST00000485729.2:p.Trp169Ter
	ENST00000488199.5:c.242G>A	ENST00000488199.5:p.Trp81Ter
	ENST00000714164.1:c.77-2707G>A
	ENST00000714170.1:c.404G>A	ENST00000714170.1:p.Trp135Ter
	ENST00000714172.1:c.340+375G>A
	ENST00000714174.1:c.428+287G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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
not provided		no assertion 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.506G>A (p.Trp169Ter) 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: rs797045145 dbSNP
Genome: hg19
Position: chr6:26,091,707-26,091,707
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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