chr6:26091185:A>T Detail (hg19) (HFE, HFE-AS1)

Information

Genome

Assembly Position
hg19 chr6:26,091,185-26,091,185
hg38 chr6:26,090,957-26,090,957 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139004.2:c.193A>T NP_620573.1:p.Ser65Cys
NM_139003.2:c.193A>T NP_620572.1:p.Ser65Cys
NM_139007.2:c.77-357A>T
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 Conflicting classifications of pathogenicity
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 2021-12-07 criteria provided, multiple submitters, no conflicts hemochromatosis type 1 unknown germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Alzheimer disease,variegate porphyria,Microvascular complications of diabetes, susceptibility to, 7,Transferrin serum level quantitative trait locus 2,hemochromatosis type 1,Familial porphyria cutanea tarda unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter variegate porphyria,hemochromatosis type 1,Familial porphyria cutanea tarda,Transferrin serum level quantitative trait locus 2,Microvascular complications of diabetes, susceptibility to, 7,Alzheimer disease type 1 germline Detail
Uncertain significance 2024-02-20 criteria provided, single submitter HFE-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.205 Hereditary hemochromatosis The aim of the study was to assess the frequencies of the hereditary hemochromat... BeFree 15042317 Detail
0.005 porphyria cutanea tarda By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.205 Hereditary hemochromatosis Although the most prevalent genotype in HH is homozygosity for C282Y mutation of... BeFree 18036208 Detail
0.360 hemochromatosis Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with typ... BeFree 21736562 Detail
0.205 Hereditary hemochromatosis Three allelic variants of HFE gene have been correlated with hereditary hemochro... BeFree 19822954 Detail
0.205 Hereditary hemochromatosis In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.205 Hereditary hemochromatosis The C282Y mutation of the HFE gene, held responsible for HH, has been identified... BeFree 12952143 Detail
0.360 hemochromatosis Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood do... BeFree 15042317 Detail
<0.001 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.011 coronary artery disease No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112... BeFree 18810584 Detail
<0.001 Iron Overload In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.170 Iron Overload Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C)... BeFree 17589946 Detail
0.360 hemochromatosis To test whether genetic haemochromatosis is associated with myocardial infarctio... BeFree 11886425 Detail
0.562 HEMOCHROMATOSIS, TYPE 3 By contrast, the frequencies of the common H63D mutation did not differ, and the... BeFree 17298224 Detail
0.205 Hereditary hemochromatosis To investigate the prevalence in the Michigan non-Hispanic Caucasian population ... BeFree 16113534 Detail
0.003 alpha-Thalassemia The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y... BeFree 17160266 Detail
<0.001 Hereditary hemochromatosis In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.170 Iron Overload Three allelic variants of HFE gene have been correlated with hereditary hemochro... BeFree 19822954 Detail
0.170 Iron Overload Three polymorphic gene mutations in the human hemochromatosis (HFE) gene (C282Y,... BeFree 14635204 Detail
0.170 Iron Overload In this pilot study, common variants of the apolipoprotein E (APOE) and HFE gene... BeFree 18525129 Detail
0.161 hepatitis C Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C... BeFree 12673077 Detail
0.127 Cardiovascular Diseases No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112... BeFree 18810584 Detail
0.003 Hemoglobinopathies The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y... BeFree 17160266 Detail
<0.001 Cardiomyopathy, Familial Idiopathic Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients... BeFree 15642540 Detail
0.170 Iron Overload Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozy... BeFree 11943417 Detail
0.001 Sporadic porphyria cutanea tarda S65C, C282Y), and in a case control study we searched for an association between... BeFree 11929045 Detail
0.170 Iron Overload Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospect... BeFree 12377814 Detail
0.004 Fibrosis, Liver The HFE S65C mutation may lead to mild to moderate hepatic iron overload but nei... BeFree 12377814 Detail
0.200 HEMOCHROMATOSIS, TYPE 1 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2... UNIPROT 14633868 Detail
0.360 hemochromatosis A third HFE mutation, S65C, has been associated with the development of a mild f... BeFree 15538648 Detail
0.205 Hereditary hemochromatosis We examined the prevalence of the S65C mutation of the hemochromatosis gene in B... BeFree 19681031 Detail
0.360 hemochromatosis Two novel missense mutations of the HFE gene (I105T and G93R) and identification... BeFree 10575540 Detail
0.360 hemochromatosis The results do not support the use of DNA genotyping for the HFE S65C mutation i... BeFree 10660483 Detail
0.360 hemochromatosis HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implic... BeFree 10194428 Detail
0.170 Iron Overload A recently discovered novel amino acid variant of HFE, namely S65C, has been imp... BeFree 10660483 Detail
0.205 Hereditary hemochromatosis Using fluorescently labeled allele-specific primers, the S65C (193A--&gt;T) subs... BeFree 10939445 Detail
0.360 hemochromatosis The HFE S65C mutation may lead to mild to moderate hepatic iron overload but nei... BeFree 12377814 Detail
0.003 Myocardial Ischemia This suggests that the S65C allele may contribute to the development of CM, but ... BeFree 18810584 Detail
0.205 Hereditary hemochromatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND Hemochromatosis type 1 ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND Hereditary hemochromatosis ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND not provided ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND not specified ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND multiple conditions ClinVar Detail
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) AND HFE-related disorder ClinVar Detail
The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two a... DisGeNET Detail
Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis... DisGeNET Detail
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is si... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major geneti... DisGeNET Detail
Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Is... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112; S65C, P = 0.170) o... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver di... DisGeNET Detail
To test whether genetic haemochromatosis is associated with myocardial infarction, we determined the... DisGeNET Detail
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies ... DisGeNET Detail
To investigate the prevalence in the Michigan non-Hispanic Caucasian population of the C282Y, H63D a... DisGeNET Detail
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HF... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is si... DisGeNET Detail
Three polymorphic gene mutations in the human hemochromatosis (HFE) gene (C282Y, H63D, S65C) are ass... DisGeNET Detail
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the i... DisGeNET Detail
Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study ... DisGeNET Detail
No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112; S65C, P = 0.170) o... DisGeNET Detail
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HF... DisGeNET Detail
Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dil... DisGeNET Detail
Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. DisGeNET Detail
S65C, C282Y), and in a case control study we searched for an association between sPCT and the human ... DisGeNET Detail
Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patient... DisGeNET Detail
The HFE S65C mutation may lead to mild to moderate hepatic iron overload but neither clinically mani... DisGeNET Detail
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing... DisGeNET Detail
A third HFE mutation, S65C, has been associated with the development of a mild form of hemochromatos... DisGeNET Detail
We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clini... DisGeNET Detail
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio... DisGeNET Detail
The results do not support the use of DNA genotyping for the HFE S65C mutation in population screeni... DisGeNET Detail
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form o... DisGeNET Detail
A recently discovered novel amino acid variant of HFE, namely S65C, has been implicated to be respon... DisGeNET Detail
Using fluorescently labeled allele-specific primers, the S65C (193A--&gt;T) substitution associated ... DisGeNET Detail
The HFE S65C mutation may lead to mild to moderate hepatic iron overload but neither clinically mani... DisGeNET Detail
This suggests that the S65C allele may contribute to the development of CM, but that these three HFE... 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
rs1800730 dbSNP
Genome
hg19
Position
chr6:26,091,185-26,091,185
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.311604253351826E-4
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
1225
Heterozygous Counts in All Race (ExAC)
1197
Homozygous Counts in All Race (ExAC)
14
Allele Frequency in All Race (ExAC)
0.010089778436702083
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