chr5:136046407:G>A Detail (hg38) (TGFBI)

Information

Genome

Assembly Position
hg19 chr5:135,382,096-135,382,096 View the variant detail on this assembly version.
hg38 chr5:136,046,407-136,046,407

HGVS

Type Transcript Protein
RefSeq NM_000358.2:c.371G>A NP_000349.1:p.Arg124His
Ensemble ENST00000442011.7:c.371G>A ENST00000442011.7:p.Arg124His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 tgv22871318 TogoVar
COSMIC COSM3138534 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic nephropathy germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-02-09 criteria provided, multiple submitters, no conflicts Avellino corneal dystrophy germline unknown Detail
Pathogenic 2024-01-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-03 criteria provided, single submitter 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
0.481 Thiel-Behnke corneal dystrophy Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Th... BeFree 17198850 Detail
0.483 Reis-Bucklers' corneal dystrophy Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Th... BeFree 17198850 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
0.485 Avellino corneal dystrophy Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avelli... BeFree 9860011 Detail
0.023 corneal dystrophy Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations resp... BeFree 9780098 Detail
0.485 Avellino corneal dystrophy In Avellino corneal dystrophy (Arg124His mutation of human transforming growth f... BeFree 17846354 Detail
0.008 Granular Dystrophy, Corneal PCFs were isolated from the corneas of normal subjects and GCD II patients who w... BeFree 19933198 Detail
0.008 Granular Dystrophy, Corneal A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a sup... BeFree 9930165 Detail
0.023 corneal dystrophy Many reports showed that even though the causative mutation is the same TGFBI R1... BeFree 21628991 Detail
0.483 Reis-Bucklers' corneal dystrophy NA CLINVAR Detail
0.485 Avellino corneal dystrophy Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows alleli... BeFree 17096061 Detail
0.485 Avellino corneal dystrophy Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated wit... BeFree 17317389 Detail
0.485 Avellino corneal dystrophy An unusual clinical phenotype of Avellino corneal dystrophy associated with an A... BeFree 15059726 Detail
0.485 Avellino corneal dystrophy Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. BeFree 18465714 Detail
0.023 corneal dystrophy Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows alleli... BeFree 17096061 Detail
0.023 corneal dystrophy Varied appearance of cornea of patients with corneal dystrophy associated with R... BeFree 10422854 Detail
0.023 corneal dystrophy This study was designed to describe the clinical, histologic, and ultrastructura... BeFree 10889112 Detail
0.485 Avellino corneal dystrophy NA CLINVAR Detail
0.485 Avellino corneal dystrophy Primary culture corneal fibroblasts were isolated from the corneas of healthy su... BeFree 21310903 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) AND Avellino corneal dystrophy ClinVar Detail
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) AND not provided ClinVar Detail
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) 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
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal d... DisGeNET Detail
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal d... DisGeNET Detail
Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy... DisGeNET Detail
Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy... DisGeNET Detail
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three au... DisGeNET Detail
In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced g... DisGeNET Detail
PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and... DisGeNET Detail
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of ... DisGeNET Detail
Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there ... DisGeNET Detail
NA DisGeNET Detail
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H... DisGeNET Detail
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD. DisGeNET Detail
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 ... DisGeNET Detail
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. DisGeNET Detail
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H... DisGeNET Detail
Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the... DisGeNET Detail
This study was designed to describe the clinical, histologic, and ultrastructural features of the co... DisGeNET Detail
NA DisGeNET Detail
Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients ... 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
rs121909211 dbSNP
Genome
hg38
Position
chr5:136,046,407-136,046,407
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121909211
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
6
East Asian Heterozygous Counts (ExAC)
6
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
6.976744186046512E-4
Chromosome Counts in All Race (ExAC)
120220
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.8226584594909334E-5
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