chr6:26091582:A>C Detail (hg19) (HFE)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:26,091,582-26,091,582 |
hg38 | chr6:26,091,354-26,091,354 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_139004.2:c.340+250A>C | |
NM_139003.2:c.340+250A>C | ||
NM_139007.2:c.117A>C | NP_620576.1:p.Gln39His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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1999-08-01 | no assertion criteria provided | hemochromatosis type 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.458 | variegate porphyria | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63... | BeFree | 10401000 | Detail |
<0.001 | variegate porphyria | Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63... | BeFree | 10401000 | Detail |
0.200 | HEMOCHROMATOSIS, TYPE 1 | Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyr... | UNIPROT | 10401000 | 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.381A>C (p.Gln127His) AND Hemochromatosis type 1 | ClinVar | Detail |
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s... | DisGeNET | Detail |
Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently s... | DisGeNET | Detail |
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. | 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
- rs28934595 dbSNP
- Genome
- hg19
- Position
- chr6:26,091,582-26,091,582
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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