chr7:100225917:C>T Detail (hg19) (TFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:100,225,917-100,225,917 |
hg38 | chr7:100,628,294-100,628,294 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003227.3:c.1403G>A | NP_003218.2:p.Arg468His |
Ensemble | ENST00000223051.8:c.1403G>A | ENST00000223051.8:p.Arg468His |
ENST00000431692.5:c.*78G>A |
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 | 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 |
---|---|---|---|---|---|
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no assertion provided | hemochromatosis type 3 |
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Detail | |
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2024-01-31 | criteria provided, single submitter | Hereditary hemochromatosis |
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Detail |
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2015-07-10 | criteria provided, single submitter | not provided |
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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.1403G>A (p.Arg468His) AND Hemochromatosis type 3 | ClinVar | Detail |
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) AND Hereditary hemochromatosis | ClinVar | Detail |
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) AND not provided | 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
- rs80338885 dbSNP
- Genome
- hg19
- Position
- chr7:100,225,917-100,225,917
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8604
- East Asian Allele Counts (ExAC)
- 8
- East Asian Heterozygous Counts (ExAC)
- 8
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 9.298000929800093E-4
- Chromosome Counts in All Race (ExAC)
- 120290
- Allele Counts in All Race (ExAC)
- 87
- Heterozygous Counts in All Race (ExAC)
- 87
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.232521406600714E-4
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