chr5:135392469:C>T Detail (hg19) (TGFBI)

Information

Genome

Assembly Position
hg19 chr5:135,392,469-135,392,469
hg38 chr5:136,056,780-136,056,780 View the variant detail on this assembly version.

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601692 OMIM
HGNC 11771 HGNC
Ensembl ENSG00000120708 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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
hg19
Position
chr5:135,392,469-135,392,469
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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