chr6:26091703:G>C Detail (hg19) (HFE)

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

Information

Genome

Assembly	Position
hg19	chr6:26,091,703-26,091,703
hg38	chr6:26,091,475-26,091,475 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_139004.2:c.340+371G>C
	NM_139003.2:c.340+371G>C
	NM_139007.2:c.238G>C	NP_620576.1:p.Glu80Gln
	NM_139008.2:c.238G>C	NP_620577.1:p.Glu80Gln
	NM_139011.2:c.77-1644G>C
	NM_139010.2:c.77-1210G>C
	NM_000410.3:c.502G>C	NP_000401.1:p.Glu168Gln
	NM_001300749.1:c.502G>C	NP_001287678.1:p.Glu168Gln
	NM_139009.2:c.433G>C	NP_620578.1:p.Glu145Gln
	NM_139006.2:c.502G>C	NP_620575.1:p.Glu168Gln
Ensemble	ENST00000309234.11:c.502G>C	ENST00000309234.11:p.Glu168Gln
	ENST00000317896.11:c.340+371G>C
	ENST00000336625.12:c.340+371G>C
	ENST00000349999.8:c.238G>C	ENST00000349999.8:p.Glu80Gln
	ENST00000352392.8:c.77-1644G>C
	ENST00000353147.9:c.77-1210G>C
	ENST00000357618.10:c.502G>C	ENST00000357618.10:p.Glu168Gln
	ENST00000397022.7:c.433G>C	ENST00000397022.7:p.Glu145Gln
	ENST00000461397.6:c.502G>C	ENST00000461397.6:p.Glu168Gln
	ENST00000470149.5:c.502G>C	ENST00000470149.5:p.Glu168Gln
	ENST00000485729.2:c.502G>C	ENST00000485729.2:p.Glu168Gln
	ENST00000488199.5:c.238G>C	ENST00000488199.5:p.Glu80Gln
	ENST00000714164.1:c.77-2711G>C
	ENST00000714170.1:c.400G>C	ENST00000714170.1:p.Glu134Gln
	ENST00000714172.1:c.340+371G>C
	ENST00000714174.1:c.428+283G>C

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

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
Uncertain significance	2023-02-08	criteria provided, multiple submitters, no conflicts	hemochromatosis type 1	germline	Detail
Uncertain significance	2022-08-24	criteria provided, single submitter	Hereditary hemochromatosis	germline	Detail
Uncertain significance	2023-09-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail
Uncertain significance	2021-11-22	criteria provided, single submitter	hemochromatosis type 1,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1,variegate porphyria,Familial porphyria cutanea tarda	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.170	Iron Overload	Here we propose a rational diagnostic algorithm for hepatic iron overload syndro...	BeFree	19214108	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.502G>C (p.Glu168Gln) AND Hemochromatosis type 1	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND Hereditary hemochromatosis	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND not provided	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) AND multiple conditions	ClinVar	Detail
Here we propose a rational diagnostic algorithm for hepatic iron overload syndromes and illustrate p...	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: rs146519482 dbSNP
Genome: hg19
Position: chr6:26,091,703-26,091,703
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8638
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): 121012
Allele Counts in All Race (ExAC): 47
Heterozygous Counts in All Race (ExAC): 47
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.8839123392721384E-4

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