chr2:189564177:T>A Detail (hg38) (SLC40A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:190,428,903-190,428,903 View the variant detail on this assembly version. |
| hg38 | chr2:189,564,177-189,564,177 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014585.5:c.809A>T | NP_055400.1:p.Asp270Val |
| Ensemble | ENST00000261024.7:c.809A>T | ENST00000261024.7:p.Asp270Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2023-05-19 | criteria provided, single submitter | hemochromatosis type 4 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | HEMOCHROMATOSIS, TYPE 4 | NA | CLINVAR | Detail | |
| 0.141 | Iron Overload | Mild iron overload in an African American man with SLC40A1 D270V. | BeFree | 22584997 | Detail |
| 0.141 | Iron Overload | We identified a novel D270V mutation in the SLC40A1 gene in a Black South Africa... | BeFree | 15338274 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) AND Hemochromatosis type 4 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Mild iron overload in an African American man with SLC40A1 D270V. | DisGeNET | Detail |
| We identified a novel D270V mutation in the SLC40A1 gene in a Black South African female with iron o... | 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
- rs368420430 dbSNP
- Genome
- hg38
- Position
- chr2:189,564,177-189,564,177
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 121216
- Allele Counts in All Race (ExAC)
- 9
- Heterozygous Counts in All Race (ExAC)
- 9
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.424762407602956E-5
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