chr8:143995809:G>A Detail (hg19) (CYP11B2, LOC106799834)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr8:143,995,809-143,995,809
hg38	chr8:142,914,393-142,914,393 View the variant detail on this assembly version.

HGVS

CYP11B2

Type	Transcript	Protein
RefSeq	NM_000498.3:c.825C>T	NP_000489.3:p.Tyr275=
Ensemble	ENST00000323110.2:c.825C>T	ENST00000323110.2:p.Tyr275=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	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
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Links

CYP11B2

Type	Database	ID	Link
Gene	MIM	124080	OMIM
	HGNC	2592	HGNC
	Ensembl	ENSG00000179142	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-01-31	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2020-09-16	no assertion criteria provided	Corticosterone methyl oxidase type II deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.239	Hypertensive disease	In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of...	BeFree	12924618	Detail
0.143	Hypertensive disease	In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of...	BeFree	12924618	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND not provided	ClinVar	Detail
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND Corticosterone methyl oxidase type II deficiency	ClinVar	Detail
In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn...	DisGeNET	Detail
In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone syn...	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: rs5310 dbSNP
Genome: hg19
Position: chr8:143,995,809-143,995,809
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 7892
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): 109672
Allele Counts in All Race (ExAC): 299
Heterozygous Counts in All Race (ExAC): 297
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.002726311182434897

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