chr19:41858876:C>G Detail (hg19) (TGFB1, TMEM91)

Information

Genome

Assembly Position
hg19 chr19:41,858,876-41,858,876
hg38 chr19:41,352,971-41,352,971 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000660.5:c.74G>C NP_000651.3:p.Arg25Pro
Ensemble ENST00000221930.6:c.74G>C ENST00000221930.6:p.Arg25Pro
ENST00000600196.2:c.74G>C ENST00000600196.2:p.Arg25Pro
Type Transcript Protein
RefSeq
Ensemble ENST00000539627.5:c.-30+1769C>G
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:0.003

Prediction

ClinVar

Clinical Significance 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 tgv62133850 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 618294 OMIM
HGNC 32393 HGNC
Ensembl ENSG00000142046 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62133850 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.002 Fibrosis, Liver The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.005 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.002 Fibrosis, Liver The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.036 Hepatitis C, Chronic The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.001 Virus Diseases The aim of this work was to establish an association between the single-nucleoti... BeFree 23941979 Detail
0.010 schizophrenia This study aimed at investigating the association between schizophrenia suscepti... BeFree 24065520 Detail
0.127 schizophrenia This study aimed at investigating the association between schizophrenia suscepti... BeFree 24065520 Detail
0.001 schizophrenia This study aimed at investigating the association between schizophrenia suscepti... BeFree 24065520 Detail
0.027 Malignant neoplasm of prostate We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and... BeFree 18058470 Detail
0.001 Moyamoya disease As no new genetic variants were uncovered in this study of the first exon of TGF... BeFree 22659181 Detail
0.009 prostate carcinoma We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and... BeFree 18058470 Detail
<0.001 Moyamoya disease 1 As no new genetic variants were uncovered in this study of the first exon of TGF... BeFree 22659181 Detail
0.001 Chronic Kidney Diseases The rs1800471 Polymorphism of TGFB1 Gene, Serum TGF-Beta1 Level and Chronic Kidn... BeFree 25298263 Detail
<0.001 Chronic interstitial nephritis In conclusion, rs1800471 polymorphism in TGFB1 gene does not have an impact on t... BeFree 25298263 Detail
0.005 Graves Disease Arg25Pro (c.915G&gt;C) polymorphism of transforming growth factor β1 gene increa... BeFree 24742542 Detail
0.024 rheumatoid arthritis The functional class evaluated in rheumatoid arthritis is associated with solubl... BeFree 21113716 Detail
<0.001 Chronic Kidney Insufficiency The rs1800471 Polymorphism of TGFB1 Gene, Serum TGF-Beta1 Level and Chronic Kidn... BeFree 25298263 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000660.7(TGFB1):c.74G>C (p.Arg25Pro) AND not specified ClinVar Detail
NM_000660.7(TGFB1):c.74G>C (p.Arg25Pro) AND not provided ClinVar Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
The aim of this work was to establish an association between the single-nucleotide polymorphisms (SN... DisGeNET Detail
This study aimed at investigating the association between schizophrenia susceptibility and selected ... DisGeNET Detail
This study aimed at investigating the association between schizophrenia susceptibility and selected ... DisGeNET Detail
This study aimed at investigating the association between schizophrenia susceptibility and selected ... DisGeNET Detail
We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and Arg25Pro, on prosta... DisGeNET Detail
As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD p... DisGeNET Detail
We evaluated the influence of the TGFB1 polymorphisms by ARMS-PCR, Leu10Pro, and Arg25Pro, on prosta... DisGeNET Detail
As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD p... DisGeNET Detail
The rs1800471 Polymorphism of TGFB1 Gene, Serum TGF-Beta1 Level and Chronic Kidney Disease Progressi... DisGeNET Detail
In conclusion, rs1800471 polymorphism in TGFB1 gene does not have an impact on the development and p... DisGeNET Detail
Arg25Pro (c.915G&gt;C) polymorphism of transforming growth factor β1 gene increases the risk of deve... DisGeNET Detail
The functional class evaluated in rheumatoid arthritis is associated with soluble TGF-β1 serum level... DisGeNET Detail
The rs1800471 Polymorphism of TGFB1 Gene, Serum TGF-Beta1 Level and Chronic Kidney Disease Progressi... 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
rs1800471 dbSNP
Genome
hg19
Position
chr19:41,858,876-41,858,876
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1006
Mean of sample read depth (HGVD)
26.38
Standard deviation of sample read depth (HGVD)
13.20
Number of reference allele (HGVD)
2011
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.970178926441351E-4
Gene Symbol (HGVD)
TGFB1
East Asian Chromosome Counts (ExAC)
368
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002717391304347826
Chromosome Counts in All Race (ExAC)
15146
Allele Counts in All Race (ExAC)
1200
Heterozygous Counts in All Race (ExAC)
1120
Homozygous Counts in All Race (ExAC)
40
Allele Frequency in All Race (ExAC)
0.0792288392975043
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