chr2:190436485:T>C Detail (hg19) (SLC40A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:190,436,485-190,436,485 |
| hg38 | chr2:189,571,759-189,571,759 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014585.5:c.470A>G | NP_055400.1:p.Asp157Gly |
| Ensemble | ENST00000261024.7:c.470A>G | ENST00000261024.7:p.Asp157Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2022-05-20 | criteria provided, multiple submitters, no conflicts | hemochromatosis type 4 |
germline
unknown
|
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.470A>G (p.Asp157Gly) 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
- rs104893663 dbSNP
- Genome
- hg19
- Position
- chr2:190,436,485-190,436,485
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser