chr5:135382095:C>A 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>A NP_000349.1:p.Arg124Ser
Ensemble ENST00000442011.7:c.370C>A ENST00000442011.7:p.Arg124Ser
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 2002-04-01 no assertion criteria provided Groenouw corneal dystrophy type I germline Detail
Pathogenic 2021-09-21 criteria provided, single submitter epithelial-stromal TGFBI dystrophy 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

DescrptionSourceLinks
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) AND Groenouw corneal dystrophy type I ClinVar Detail
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) AND Epithelial-stromal TGFBI dystrophy 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
A
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