chr5:136056780:C>T Detail (hg38) (TGFBI)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:135,392,469-135,392,469 View the variant detail on this assembly version. |
| hg38 | chr5:136,056,780-136,056,780 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000358.2:c.1663C>T | NP_000349.1:p.Arg555Trp |
| Ensemble | ENST00000442011.7:c.1663C>T | ENST00000442011.7:p.Arg555Trp |
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
|
2021-09-22 | criteria provided, single submitter | Groenouw corneal dystrophy type I |
germline
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2021-05-07 | criteria provided, single submitter | Avellino corneal dystrophy,Corneal dystrophy, lattice type 3A,Groenouw corneal dystrophy type I,Reis-Bucklers' corneal dystrophy,epithelial basement membrane dystrophy,Thiel-Behnke corneal dystrophy,Lattice corneal dystrophy Type I |
de novo
|
Detail |
|
Pathogenic
|
2022-05-03 | criteria provided, single submitter | Lattice corneal dystrophy Type I |
germline
|
Detail |
|
Pathogenic
|
2023-10-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.023 | corneal dystrophy | We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by gener... | BeFree | 18568131 | Detail |
| 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 | We identified two TGFBI mutations: R124C (exon 4), which segregated with lattice... | BeFree | 17768377 | Detail |
| 0.008 | Granular Dystrophy, Corneal | We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain... | BeFree | 24129074 | Detail |
| 0.008 | Granular Dystrophy, Corneal | Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710... | BeFree | 11189007 | Detail |
| 0.481 | Groenouw corneal dystrophy type I (disorder) | NA | CLINVAR | Detail | |
| 0.493 | Lattice corneal dystrophy Type I | This study expands on our previous research investigating dystrophic stromal agg... | BeFree | 26207300 | Detail |
| 0.008 | Granular Dystrophy, Corneal | This study expands on our previous research investigating dystrophic stromal agg... | BeFree | 26207300 | Detail |
| 0.008 | Granular Dystrophy, Corneal | The classic form of granular corneal dystrophy associated with R555W mutation in... | BeFree | 9744382 | Detail |
| 0.008 | Granular Dystrophy, Corneal | Five individuals in family A were found by clinical evaluation to be affected wi... | BeFree | 15377440 | Detail |
| 0.008 | Granular Dystrophy, Corneal | An autosomal dominant granular corneal dystrophy family associated with R555W mu... | BeFree | 12709742 | Detail |
| 0.023 | corneal dystrophy | R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corn... | BeFree | 17768377 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND Groenouw corneal dystrophy type I | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND multiple conditions | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND Lattice corneal dystrophy Type I | ClinVar | Detail |
| NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND not provided | ClinVar | Detail |
| We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by generating transgenic mic... | DisGeNET | Detail |
| In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four T... | DisGeNET | Detail |
| We identified two TGFBI mutations: R124C (exon 4), which segregated with lattice type I corneal dyst... | DisGeNET | Detail |
| We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGF... | DisGeNET | Detail |
| Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) produc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study expands on our previous research investigating dystrophic stromal aggregates, with the ai... | DisGeNET | Detail |
| This study expands on our previous research investigating dystrophic stromal aggregates, with the ai... | DisGeNET | Detail |
| The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is r... | DisGeNET | Detail |
| Five individuals in family A were found by clinical evaluation to be affected with granular corneal ... | DisGeNET | Detail |
| An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 ... | DisGeNET | Detail |
| R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. | 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
- rs121909208 dbSNP
- Genome
- hg38
- Position
- chr5:136,056,780-136,056,780
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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