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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-12-07 | criteria provided, multiple submitters, no conflicts | hemochromatosis type 1 |
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Detail |
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2024-01-31 | criteria provided, single submitter | Hereditary hemochromatosis |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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2024-04-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2024-02-06 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
![]() |
Detail |
![]() |
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 |
![]() |
Detail |
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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 |
![]() |
Detail |
![]() |
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 |
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Detail |
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2024-02-20 | criteria provided, single submitter | HFE-related disorder |
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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-->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
Descrption | Source | Links |
---|---|---|
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-->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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