chr7:100226936:C>T Detail (hg19) (TFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:100,226,936-100,226,936 |
| hg38 | chr7:100,629,313-100,629,313 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003227.3:c.1330G>A | NP_003218.2:p.Ala444Thr |
| Ensemble | ENST00000223051.8:c.1330G>A | ENST00000223051.8:p.Ala444Thr |
| ENST00000431692.5:c.*5G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-03-28 | criteria provided, conflicting interpretations | hemochromatosis type 3 |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.562 | HEMOCHROMATOSIS, TYPE 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) AND Hemochromatosis type 3 | 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
- rs80338884 dbSNP
- Genome
- hg19
- Position
- chr7:100,226,936-100,226,936
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser