chr3:148741522:G>A Detail (hg38) (AGTR1)

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Information

Genome

Assembly	Position
hg19	chr3:148,459,309-148,459,309 View the variant detail on this assembly version.
hg38	chr3:148,741,522-148,741,522

Summary

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	tgv14614012	TogoVar
	COSMIC	COSM149495	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2022-08-09	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2017-04-28	criteria provided, single submitter	Renal tubular dysgenesis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	Chronic Kidney Diseases	The chi-square test and multivariable logistic regression analysis with adjustme...	BeFree	19406964	Detail
<0.001	Chronic Kidney Diseases	The chi-square test and multivariable logistic regression analysis with adjustme...	BeFree	19406964	Detail
0.002	Chronic Kidney Diseases	The chi-square test and multivariable logistic regression analysis with adjustme...	BeFree	19406964	Detail
<0.001	Chronic Kidney Diseases	The chi-square test and multivariable logistic regression analysis with adjustme...	BeFree	19406964	Detail
<0.001	Chronic Kidney Diseases	The chi-square test and multivariable logistic regression analysis with adjustme...	BeFree	19406964	Detail

Annotation

Descrption	Source	Links
NM_000685.5(AGTR1):c.487G>A (p.Ala163Thr) AND not provided	ClinVar	Detail
NM_000685.5(AGTR1):c.487G>A (p.Ala163Thr) AND Renal tubular dysgenesis	ClinVar	Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re...	DisGeNET	Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re...	DisGeNET	Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re...	DisGeNET	Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re...	DisGeNET	Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12721226 dbSNP
Genome: hg38
Position: chr3:148,741,522-148,741,522
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 194.09
Standard deviation of sample read depth (HGVD): 84.04
Number of reference allele (HGVD): 2418
Number of alternative allele (HGVD): 2
Allele Frequency (HGVD): 8.264462809917355E-4
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)): rs12721226
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 16
East Asian Heterozygous Counts (ExAC): 16
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0018505667360629193
Chromosome Counts in All Race (ExAC): 121118
Allele Counts in All Race (ExAC): 81
Heterozygous Counts in All Race (ExAC): 79
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 6.687692993609538E-4

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