chr5:136056754:C>A Detail (hg38) (TGFBI)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:135,392,443-135,392,443 View the variant detail on this assembly version. |
| hg38 | chr5:136,056,754-136,056,754 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000358.2:c.1637C>A | NP_000349.1:p.Ala546Asp |
| Ensemble | ENST00000442011.7:c.1637C>A | ENST00000442011.7:p.Ala546Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2004-11-01 | no assertion criteria provided | Lattice corneal dystrophy Type I |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | Corneal Dystrophy, Lattice Type IIIA | In our study, thirty patients from five pedigrees and ten sporadic patients were... | BeFree | 21462384 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | NA | CLINVAR | Detail | |
| 0.493 | Lattice corneal dystrophy Type I | Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an ex... | BeFree | 15111592 | Detail |
| <0.001 | Amyloid of cornea | Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an ex... | BeFree | 15111592 | Detail |
| 0.002 | Corneal dystrophy, Lattice type 3 | Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an ex... | BeFree | 15111592 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | Amyloid deposits were isolated from the corneas of two siblings with LCD type 1 ... | BeFree | 24302499 | Detail |
| 0.008 | Familial Amyloid Polyneuropathy, Type V | Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense c... | BeFree | 15531312 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000358.2(TGFBI):c.[1637C>A;1652C>A] AND Lattice corneal dystrophy Type I | ClinVar | Detail |
| In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four T... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied fa... | DisGeNET | Detail |
| Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied fa... | DisGeNET | Detail |
| Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied fa... | DisGeNET | Detail |
| Amyloid deposits were isolated from the corneas of two siblings with LCD type 1 resulting from A546D... | DisGeNET | Detail |
| Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI ... | 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
- rs267607110 dbSNP
- Genome
- hg38
- Position
- chr5:136,056,754-136,056,754
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser