chr6:26091078:T>C Detail (hg38) (HFE)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:26,091,306-26,091,306 View the variant detail on this assembly version. |
hg38 | chr6:26,091,078-26,091,078 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_139004.2:c.314T>C | NP_620573.1:p.Ile105Thr |
NM_139003.2:c.314T>C | NP_620572.1:p.Ile105Thr | |
NM_139007.2:c.77-236T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | hemochromatosis | Two novel missense mutations of the HFE gene (I105T and G93R) and identification... | BeFree | 10575540 | Detail |
0.200 | HEMOCHROMATOSIS, TYPE 1 | Two novel missense mutations of the HFE gene (I105T and G93R) and identification... | UNIPROT | 10575540 | Detail |
0.205 | Hereditary hemochromatosis | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) AND Hemochromatosis type 1 | ClinVar | Detail |
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) AND Hereditary hemochromatosis | ClinVar | Detail |
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio... | DisGeNET | Detail |
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio... | 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
- rs28934596 dbSNP
- Genome
- hg38
- Position
- chr6:26,091,078-26,091,078
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser