chr19:41847860:G>A Detail (hg19) (TGFB1)

Information

Genome

Assembly Position
hg19 chr19:41,847,860-41,847,860
hg38 chr19:41,341,955-41,341,955 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000660.5:c.788C>T NP_000651.3:p.Thr263Ile
Ensemble ENST00000221930.6:c.788C>T ENST00000221930.6:p.Thr263Ile
ENST00000600196.2:c.712+215C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 190180 OMIM
HGNC 11766 HGNC
Ensembl ENSG00000105329 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62133382 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-07-24 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Thyroid Nodule Elevated thyroid nodule risks were associated with the minor alleles of RET S836... BeFree 19138047 Detail
0.004 Thyroid Nodule Elevated thyroid nodule risks were associated with the minor alleles of RET S836... BeFree 19138047 Detail
0.010 Chronic Periodontitis This study shows that TGF-β1 29 C/T polymorphism, but not -509 C/T and 788 C/T p... BeFree 23352795 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) AND not specified ClinVar Detail
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) AND not provided ClinVar Detail
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... DisGeNET Detail
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... DisGeNET Detail
This study shows that TGF-β1 29 C/T polymorphism, but not -509 C/T and 788 C/T polymorphisms, may co... 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
rs1800472 dbSNP
Genome
hg19
Position
chr19:41,847,860-41,847,860
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
896
Mean of sample read depth (HGVD)
20.36
Standard deviation of sample read depth (HGVD)
11.16
Number of reference allele (HGVD)
1790
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.0011160714285714285
Gene Symbol (HGVD)
TGFB1
East Asian Chromosome Counts (ExAC)
8640
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)
120682
Allele Counts in All Race (ExAC)
2970
Heterozygous Counts in All Race (ExAC)
2836
Homozygous Counts in All Race (ExAC)
67
Allele Frequency in All Race (ExAC)
0.024610132414113122
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