chr6:26093144:A>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	chr6:26,093,144-26,093,144
hg38	chr6:26,092,916-26,092,916 View the variant detail on this assembly version.

HGVS

HFE

Type	Transcript	Protein
RefSeq	NM_139004.2:c.572A>C	NP_620573.1:p.Gln191Pro
	NM_139003.2:c.530A>C	NP_620572.1:p.Gln177Pro
	NM_139007.2:c.584A>C	NP_620576.1:p.Gln195Pro
	NM_139008.2:c.584A>C	NP_620577.1:p.Gln195Pro
	NM_139011.2:c.77-203A>C
	NM_139010.2:c.308A>C	NP_620579.1:p.Gln103Pro
	NM_000410.3:c.848A>C	NP_000401.1:p.Gln283Pro
	NM_001300749.1:c.848A>C	NP_001287678.1:p.Gln283Pro
	NM_139009.2:c.779A>C	NP_620578.1:p.Gln260Pro
	NM_139006.2:c.806A>C	NP_620575.1:p.Gln269Pro
Ensemble	ENST00000309234.11:c.848A>C	ENST00000309234.11:p.Gln283Pro
	ENST00000317896.11:c.572A>C	ENST00000317896.11:p.Gln191Pro
	ENST00000336625.12:c.530A>C	ENST00000336625.12:p.Gln177Pro
	ENST00000349999.8:c.584A>C	ENST00000349999.8:p.Gln195Pro
	ENST00000352392.8:c.77-203A>C
	ENST00000353147.9:c.308A>C	ENST00000353147.9:p.Gln103Pro
	ENST00000357618.10:c.848A>C	ENST00000357618.10:p.Gln283Pro
	ENST00000397022.7:c.779A>C	ENST00000397022.7:p.Gln260Pro
	ENST00000461397.6:c.806A>C	ENST00000461397.6:p.Gln269Pro
	ENST00000470149.5:c.839A>C	ENST00000470149.5:p.Gln280Pro
	ENST00000485729.2:c.848A>C	ENST00000485729.2:p.Gln283Pro
	ENST00000488199.5:c.542A>C	ENST00000488199.5:p.Gln181Pro
	ENST00000714164.1:c.77-1270A>C
	ENST00000714170.1:c.746A>C	ENST00000714170.1:p.Gln249Pro
	ENST00000714172.1:c.572A>C	ENST00000714172.1:p.Gln191Pro
	ENST00000714174.1:c.429-203A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
Likely pathogenic	2023-07-03	criteria provided, single submitter	hemochromatosis type 1	germline	Detail
Pathogenic	2022-09-12	criteria provided, single submitter	Hereditary hemochromatosis	germline	Detail
Likely pathogenic	2024-01-01	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<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.848A>C (p.Gln283Pro) AND Hemochromatosis type 1	ClinVar	Detail
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) AND Hereditary hemochromatosis	ClinVar	Detail
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) AND not provided	ClinVar	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: rs111033563 dbSNP
Genome: hg19
Position: chr6:26,093,144-26,093,144
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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