chr2:189565572:T>A Detail (hg38) (SLC40A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:190,430,298-190,430,298 View the variant detail on this assembly version. |
| hg38 | chr2:189,565,572-189,565,572 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014585.5:c.542A>T | NP_055400.1:p.Asp181Val |
| Ensemble | ENST00000261024.7:c.542A>T | ENST00000261024.7:p.Asp181Val |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2005-12-01 | no assertion criteria provided | hemochromatosis type 4 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | HEMOCHROMATOSIS, TYPE 4 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014585.6(SLC40A1):c.542A>T (p.Asp181Val) AND Hemochromatosis type 4 | ClinVar | 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
- rs104893672 dbSNP
- Genome
- hg38
- Position
- chr2:189,565,572-189,565,572
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser