chr3:148741608:C>T Detail (hg38) (AGTR1)

Information

Genome

Assembly Position
hg19 chr3:148,459,395-148,459,395 View the variant detail on this assembly version.
hg38 chr3:148,741,608-148,741,608

HGVS

Type Transcript Protein
RefSeq NM_000685.4:c.573C>T NP_000676.1:p.Leu191=
NM_031850.3:c.573C>T NP_114038.4:p.Leu191=
NM_032049.3:c.573C>T NP_114438.2:p.Leu191=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.646
ToMMo:0.645
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.702

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 106165 OMIM
HGNC 336 HGNC
Ensembl ENSG00000144891 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14614028 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 2021-07-14 criteria provided, multiple submitters, no conflicts Renal tubular dysgenesis germline Detail
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 Chronic Kidney Diseases We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate d... BeFree 22147663 Detail
0.011 myocardial infarction This study investigates whether the interaction between angiotensin-converting e... BeFree 18347611 Detail
0.241 atherosclerosis To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... BeFree 17298481 Detail
0.029 Cerebrovascular accident This study investigates whether the interaction between angiotensin-converting e... BeFree 18347611 Detail
0.002 Chronic Kidney Diseases We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate d... BeFree 22147663 Detail
0.147 myocardial infarction This study investigates whether the interaction between angiotensin-converting e... BeFree 18347611 Detail
0.002 arteriosclerosis To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... BeFree 17298481 Detail
0.011 Hypertensive disease Although the AGTR1 SNP did not show any association with WMLs, the interaction o... BeFree 24622918 Detail
0.038 atherosclerosis To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... BeFree 17298481 Detail
0.012 arteriosclerosis To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletio... BeFree 17298481 Detail
0.359 Hypertensive disease Although the AGTR1 SNP did not show any association with WMLs, the interaction o... BeFree 24622918 Detail
0.080 Cerebrovascular accident This study investigates whether the interaction between angiotensin-converting e... BeFree 18347611 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND not specified ClinVar Detail
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND Renal tubular dysgenesis ClinVar Detail
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND not provided ClinVar Detail
We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate determinants of CKD. DisGeNET Detail
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... DisGeNET Detail
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... DisGeNET Detail
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... DisGeNET Detail
We conclude that ACE-A2350G and AGTR1-C573T polymorphisms are likely candidate determinants of CKD. DisGeNET Detail
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... DisGeNET Detail
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... DisGeNET Detail
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... DisGeNET Detail
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... DisGeNET Detail
To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensin... DisGeNET Detail
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... DisGeNET Detail
This study investigates whether the interaction between angiotensin-converting enzyme (ACE) inhibito... 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
rs5182 dbSNP
Genome
hg38
Position
chr3:148,741,608-148,741,608
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1192
Mean of sample read depth (HGVD)
121.73
Standard deviation of sample read depth (HGVD)
51.51
Number of reference allele (HGVD)
843
Number of alternative allele (HGVD)
1540
Allele Frequency (HGVD)
0.6462442299622325
Gene Symbol (HGVD)
AGTR1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5182
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6453
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10815
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
6067
East Asian Heterozygous Counts (ExAC)
1797
East Asian Homozygous Counts (ExAC)
2135
East Asian Allele Frequency (ExAC)
0.7021990740740741
Chromosome Counts in All Race (ExAC)
120780
Allele Counts in All Race (ExAC)
58422
Heterozygous Counts in All Race (ExAC)
28734
Homozygous Counts in All Race (ExAC)
14844
Allele Frequency in All Race (ExAC)
0.48370591157476406
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