chr5:135391459:C>G Detail (hg19) (TGFBI)

Information

Genome

Assembly Position
hg19 chr5:135,391,459-135,391,459
hg38 chr5:136,055,770-136,055,770 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000358.2:c.1501C>G NP_000349.1:p.Pro501Ala
Ensemble ENST00000442011.7:c.1501C>G ENST00000442011.7:p.Pro501Ala
Summary

MGeND

Clinical significance
Variant entry
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
Review star [No Data.]
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
[No Data.]
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
0.002 Corneal dystrophy, Lattice type 3 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P... BeFree 11004271 Detail
0.361 Corneal Dystrophy, Lattice Type IIIA Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice co... BeFree 10218700 Detail
0.365 Corneal dystrophy, Lattice type 3 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P... BeFree 11004271 Detail
0.008 Familial Amyloid Polyneuropathy, Type V Although the P501T of the BIGH3 gene found in this pedigree was precisely the on... BeFree 11004271 Detail
0.361 Corneal Dystrophy, Lattice Type IIIA Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gen... UNIPROT 11024425 Detail
0.361 Corneal Dystrophy, Lattice Type IIIA NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four T... DisGeNET Detail
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene f... DisGeNET Detail
Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type... DisGeNET Detail
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene f... DisGeNET Detail
Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for latti... DisGeNET Detail
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan... DisGeNET Detail
NA 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
-
Genome
hg19
Position
chr5:135,391,459-135,391,459
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8168
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)
113076
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.6530828823092432E-5
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