chr6:26093443:G>C Detail (hg19) (HFE)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:26,093,443-26,093,443 |
hg38 | chr6:26,093,215-26,093,215 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_139004.2:c.713G>C | NP_620573.1:p.Arg238Thr |
NM_139003.2:c.671G>C | NP_620572.1:p.Arg224Thr | |
NM_139007.2:c.725G>C | NP_620576.1:p.Arg242Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.205 | Hereditary hemochromatosis | NA | CLINVAR | Detail |
Annotation
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
- rs111033558 dbSNP
- Genome
- hg19
- Position
- chr6:26,093,443-26,093,443
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser