chr5:135392470:G>A Detail (hg19) (TGFBI)

Information

Genome

Assembly Position
hg19 chr5:135,392,470-135,392,470
hg38 chr5:136,056,781-136,056,781 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000358.2:c.1664G>A NP_000349.1:p.Arg555Gln
Ensemble ENST00000442011.7:c.1664G>A ENST00000442011.7:p.Arg555Gln
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 COSM3696919 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 Thiel-Behnke corneal dystrophy germline Detail
Pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Thiel-Behnke corneal dystrophy NA CLINVAR 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
0.023 corneal dystrophy Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrela... BeFree 17980739 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
0.483 Reis-Bucklers' corneal dystrophy Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dyst... BeFree 22906289 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) AND Thiel-Behnke corneal dystrophy ClinVar Detail
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) AND not provided ClinVar Detail
NA DisGeNET Detail
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal d... DisGeNET Detail
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibit... DisGeNET Detail
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal d... DisGeNET Detail
Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese f... 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
rs121909209 dbSNP
Genome
hg19
Position
chr5:135,392,470-135,392,470
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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