chr5:135382095:C>T Detail (hg19) (TGFBI)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:135,382,095-135,382,095 |
| hg38 | chr5:136,046,406-136,046,406 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000358.2:c.370C>T | NP_000349.1:p.Arg124Cys |
| Ensemble | ENST00000442011.7:c.370C>T | ENST00000442011.7:p.Arg124Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
criteria provided, single submitter | Lattice corneal dystrophy Type I |
germline
|
Detail | |
|
Pathogenic
|
2020-05-13 | criteria provided, single submitter | epithelial-stromal TGFBI dystrophy |
germline
|
Detail |
|
Pathogenic
|
2024-01-04 | criteria provided, single submitter | not provided |
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 | We identified two TGFBI mutations: R124C (exon 4), which segregated with lattice... | BeFree | 17768377 | 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 |
| 0.023 | corneal dystrophy | R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corn... | BeFree | 17768377 | Detail |
| 0.008 | Familial Amyloid Polyneuropathy, Type V | Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient pre... | BeFree | 20458218 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | Mutation analysis showed the classical Arg124Cys mutation in exon 4 of TGFBI/BIG... | BeFree | 16710170 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variab... | BeFree | 18615206 | Detail |
| 0.008 | Familial Amyloid Polyneuropathy, Type V | Molecular genetic analysis identified a lattice corneal dystrophy I-associated h... | BeFree | 15013897 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | NA | CLINVAR | Detail | |
| 0.493 | Lattice corneal dystrophy Type I | R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. | BeFree | 12770961 | Detail |
| 0.481 | Thiel-Behnke corneal dystrophy | Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke cor... | BeFree | 19433713 | 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 |
| 0.493 | Lattice corneal dystrophy Type I | Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avelli... | BeFree | 9860011 | Detail |
| 0.008 | Familial Amyloid Polyneuropathy, Type V | H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystr... | BeFree | 12770961 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy typ... | BeFree | 22080335 | Detail |
| 0.023 | corneal dystrophy | To report a de novo R124C mutation of transforming growth factor β-induced (TGFB... | BeFree | 25785536 | 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 |
| 0.023 | corneal dystrophy | Seven lattice CD patients from four unrelated families had an identical p.H626R ... | BeFree | 24801599 | Detail |
| 0.008 | Familial Amyloid Polyneuropathy, Type V | In lattice corneal dystrophy (Arg124Cys and Leu527Arg mutations of TGFBI), highl... | BeFree | 17846354 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in latt... | BeFree | 24425855 | Detail |
| 0.485 | Avellino corneal dystrophy | Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avelli... | BeFree | 9860011 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | Anticipation in familial lattice corneal dystrophy type I with R124C mutation in... | BeFree | 18470323 | Detail |
| 0.485 | Avellino corneal dystrophy | Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient pre... | BeFree | 20458218 | Detail |
| 0.493 | Lattice corneal dystrophy Type I | A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was ... | BeFree | 11095060 | Detail |
| 0.023 | corneal dystrophy | Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations resp... | BeFree | 9780098 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) AND Lattice corneal dystrophy Type I | ClinVar | Detail |
| NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) AND Epithelial-stromal TGFBI dystrophy | ClinVar | Detail |
| NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) AND not provided | ClinVar | 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 |
| 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 |
| R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. | DisGeNET | Detail |
| Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with feature... | DisGeNET | Detail |
| Mutation analysis showed the classical Arg124Cys mutation in exon 4 of TGFBI/BIGH3, associated with ... | DisGeNET | Detail |
| An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in thre... | DisGeNET | Detail |
| Molecular genetic analysis identified a lattice corneal dystrophy I-associated heterozygous missense... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. | DisGeNET | Detail |
| Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. | DisGeNET | Detail |
| Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied fa... | DisGeNET | Detail |
| Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy... | DisGeNET | Detail |
| H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese p... | DisGeNET | Detail |
| The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is charac... | DisGeNET | Detail |
| To report a de novo R124C mutation of transforming growth factor β-induced (TGFBI) gene in one of di... | 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 |
| Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, t... | DisGeNET | Detail |
| In lattice corneal dystrophy (Arg124Cys and Leu527Arg mutations of TGFBI), highly reflective branchi... | DisGeNET | Detail |
| Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystroph... | DisGeNET | Detail |
| Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy... | DisGeNET | Detail |
| Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g... | DisGeNET | Detail |
| Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with feature... | DisGeNET | Detail |
| A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, an... | DisGeNET | Detail |
| Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three au... | 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
- rs121909210 dbSNP
- Genome
- hg19
- Position
- chr5:135,382,095-135,382,095
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8606
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120340
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.309788931361144E-6
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