chr18:55217966:A>G Detail (hg19) (FECH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:55,217,966-55,217,966 |
| hg38 | chr18:57,550,734-57,550,734 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000140.3:c.1250T>C | NP_000131.2:p.Phe417Ser |
| NM_001012515.2:c.1034T>C | NP_001012533.1:p.Phe345Ser | |
| Ensemble | ENST00000262093.11:c.1250T>C | ENST00000262093.11:p.Phe417Ser |
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
|
1992-06-01 | 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.1250T>C (p.Phe417Ser) 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
- rs118204039 dbSNP
- Genome
- hg19
- Position
- chr18:55,217,966-55,217,966
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser