chr18:57573244:A>C Detail (hg38) (FECH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:55,240,476-55,240,476 View the variant detail on this assembly version. |
| hg38 | chr18:57,573,244-57,573,244 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000140.3:c.314+2T>G | |
| NM_001012515.2:c.98+2T>G | ||
| Ensemble | ENST00000262093.11:c.314+2T>G |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.609 | erythropoietic protoporphyria | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000140.5(FECH):c.314+2T>G AND Protoporphyria, erythropoietic, 1 | ClinVar | Detail |
| NM_000140.5(FECH):c.314+2T>G AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs149067146 dbSNP
- Genome
- hg38
- Position
- chr18:57,573,244-57,573,244
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121404
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6473921781819378E-5
Genome browser