chr7:100641198:C>T Detail (hg38) (TFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:100,238,821-100,238,821 View the variant detail on this assembly version. |
| hg38 | chr7:100,641,198-100,641,198 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003227.3:c.64G>A | NP_003218.2:p.Val22Ile |
| Ensemble | ENST00000223051.8:c.64G>A | ENST00000223051.8:p.Val22Ile |
| ENST00000431692.5:c.64G>A | ENST00000431692.5:p.Val22Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-03-02 | criteria provided, multiple submitters, no conflicts | 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.64G>A (p.Val22Ile) 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
- rs80338876 dbSNP
- Genome
- hg38
- Position
- chr7:100,641,198-100,641,198
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 64.60
- Standard deviation of sample read depth (HGVD)
- 30.88
- Number of reference allele (HGVD)
- 2406
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 8.305647840531562E-4
- Gene Symbol (HGVD)
- TFR2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs80338876
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 794
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 13710
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.9175784099197665E-4
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