chrX:116173577:A>G Detail (hg38) (AGTR2)

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Information

Genome

Assembly	Position
hg19	chrX:115,304,830-115,304,830 View the variant detail on this assembly version.
hg38	chrX:116,173,577-116,173,577

Type	Transcript	Protein
RefSeq	NM_000686.4:c.*205A>G
Ensemble	ENST00000371906.5:c.*205A>G

Summary

Links

Type	Database	ID	Link
Gene	MIM	300034	OMIM
	HGNC	338	HGNC
	Ensembl	ENSG00000180772	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv66848307	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	essential hypertension	Among the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs519...	BeFree	25099490	Detail

Annotation

Descrption	Source	Links
Among the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs5194 (AGTR2) were found...	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: rs5194 dbSNP
Genome: hg38
Position: chrX:116,173,577-116,173,577
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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)): rs5194
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.6448
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 8281
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12843

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