chr7:100633515:A>T Detail (hg38) (TFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:100,231,138-100,231,138 View the variant detail on this assembly version. |
| hg38 | chr7:100,633,515-100,633,515 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003227.3:c.515T>A | NP_003218.2:p.Met172Lys |
| Ensemble | ENST00000223051.8:c.515T>A | ENST00000223051.8:p.Met172Lys |
| ENST00000431692.5:c.515T>A | ENST00000431692.5:p.Met172Lys |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2001-05-01 | no assertion criteria provided | hemochromatosis type 3 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | HEMOCHROMATOSIS, TYPE 3 | NA | CLINVAR | Detail | |
| 0.019 | Iron Overload | Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 he... | BeFree | 16923517 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003227.4(TFR2):c.515T>A (p.Met172Lys) AND Hemochromatosis type 3 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromat... | 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
- rs80338879 dbSNP
- Genome
- hg38
- Position
- chr7:100,633,515-100,633,515
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8294
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 111388
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.977627751642906E-6
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