chr5:135396587:G>A Detail (hg19) (TGFBI)

Information

Genome

Assembly Position
hg19 chr5:135,396,587-135,396,587
hg38 chr5:136,060,898-136,060,898 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000358.2:c.1868G>A NP_000349.1:p.Gly623Asp
Ensemble ENST00000442011.7:c.1868G>A ENST00000442011.7:p.Gly623Asp
ENST00000508076.5:c.14G>A ENST00000508076.5:p.Gly5Asp
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 2005-06-01 no assertion criteria provided Reis-Bucklers' corneal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 Reis-Bucklers' corneal dystrophy NA CLINVAR Detail
0.023 corneal dystrophy A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly6... BeFree 15885785 Detail
0.008 Familial Amyloid Polyneuropathy, Type V We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutatio... BeFree 15885785 Detail
0.483 Reis-Bucklers' corneal dystrophy An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mut... BeFree 18636123 Detail
0.023 corneal dystrophy To present the light and electron microscopic findings of a unique corneal dystr... BeFree 19019446 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp) AND Reis-Bucklers' corneal dystrophy ClinVar Detail
NA DisGeNET Detail
A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in th... DisGeNET Detail
We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutation in the TGFBI gene ... DisGeNET Detail
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI. DisGeNET Detail
To present the light and electron microscopic findings of a unique corneal dystrophy never before de... 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
rs121909215 dbSNP
Genome
hg19
Position
chr5:135,396,587-135,396,587
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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