chr7:100628228:A>C Detail (hg38) (TFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:100,225,851-100,225,851 View the variant detail on this assembly version. |
hg38 | chr7:100,628,228-100,628,228 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003227.3:c.1469T>G | NP_003218.2:p.Leu490Arg |
Ensemble | ENST00000223051.8:c.1469T>G | ENST00000223051.8:p.Leu490Arg |
ENST00000431692.5:c.*144T>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | hemochromatosis type 3 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.562 | HEMOCHROMATOSIS, TYPE 3 | NA | CLINVAR | Detail | |
0.146 | hemochromatosis | Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japa... | BeFree | 15749661 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) AND Hemochromatosis type 3 | ClinVar | Detail |
NA | DisGeNET | Detail |
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with h... | 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
- rs80338886 dbSNP
- Genome
- hg38
- Position
- chr7:100,628,228-100,628,228
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs80338886
- 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
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