chr5:136056736:T>C Detail (hg38) (TGFBI)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:135,392,425-135,392,425 View the variant detail on this assembly version. |
| hg38 | chr5:136,056,736-136,056,736 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000358.2:c.1619T>C | NP_000349.1:p.Phe540Ser |
| Ensemble | ENST00000442011.7:c.1619T>C | ENST00000442011.7:p.Phe540Ser |
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
|
2005-04-01 | no assertion criteria provided | Corneal dystrophy, lattice type 3A |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Corneal Dystrophy, Lattice Type IIIA | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser) AND Corneal dystrophy, lattice type 3A | 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
- rs121909214 dbSNP
- Genome
- hg38
- Position
- chr5:136,056,736-136,056,736
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser