chr18:55247454:G>T Detail (hg19) (FECH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:55,247,454-55,247,454 |
| hg38 | chr18:57,580,222-57,580,222 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000140.3:c.68-23C>A | |
| NM_001012515.2:c.-149-23C>A | ||
| Ensemble | ENST00000262093.11:c.68-23C>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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.609 | erythropoietic protoporphyria | NA | CLINVAR | Detail |
Annotation
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr18:55,247,454-55,247,454
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8584
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1649580615097856E-4
- Chromosome Counts in All Race (ExAC)
- 120766
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.280476292996373E-6
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