chr7:100218512:C>T Detail (hg19) (TFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:100,218,512-100,218,512 |
| hg38 | chr7:100,620,889-100,620,889 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003227.3:c.2374G>A | NP_003218.2:p.Gly792Arg |
| Ensemble | ENST00000223051.8:c.2374G>A | ENST00000223051.8:p.Gly792Arg |
| ENST00000431692.5:c.*1049G>A |
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
|
2023-10-05 | criteria provided, multiple submitters, no conflicts | hemochromatosis type 3 |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2018-03-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2024-01-11 | criteria provided, single submitter | Hereditary hemochromatosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.019 | Iron Overload | Hemochromatosis and severe iron overload associated with compound heterozygosity... | BeFree | 16424658 | Detail |
| 0.146 | hemochromatosis | Hemochromatosis and severe iron overload associated with compound heterozygosity... | BeFree | 16424658 | Detail |
| 0.562 | HEMOCHROMATOSIS, TYPE 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) AND Hemochromatosis type 3 | ClinVar | Detail |
| NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) AND not provided | ClinVar | Detail |
| NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) AND Hereditary hemochromatosis | ClinVar | Detail |
| Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and ... | DisGeNET | Detail |
| Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and ... | DisGeNET | 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
- rs80338891 dbSNP
- Genome
- hg19
- Position
- chr7:100,218,512-100,218,512
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser