chr18:57580062:T>C Detail (hg38) (FECH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:55,247,294-55,247,294 View the variant detail on this assembly version. |
| hg38 | chr18:57,580,062-57,580,062 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000140.3:c.194+11A>G | |
| NM_001012515.2:c.-23+11A>G | ||
| Ensemble | ENST00000262093.11:c.194+11A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1998-07-01 | no assertion criteria provided | Protoporphyria, erythropoietic, 1 |
germline
|
Detail |
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.194+11A>G AND Protoporphyria, erythropoietic, 1 | 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
- rs786205247 dbSNP
- Genome
- hg38
- Position
- chr18:57,580,062-57,580,062
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser