chr4:149073701:G>A Detail (hg19) (NR3C2)

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

Genome

Assembly	Position
hg19	chr4:149,073,701-149,073,701
hg38	chr4:148,152,550-148,152,550 View the variant detail on this assembly version.

HGVS

NR3C2

Type	Transcript	Protein
RefSeq	NM_000901.4:c.2429C>T	NP_000892.2:p.Ser810Leu
	NM_001166104.1:c.2429C>T	NP_001159576.1:p.Ser810Leu
Ensemble	ENST00000344721.8:c.2429C>T	ENST00000344721.8:p.Ser810Leu
	ENST00000358102.8:c.2429C>T	ENST00000358102.8:p.Ser810Leu
	ENST00000511528.1:c.2441C>T	ENST00000511528.1:p.Ser814Leu
	ENST00000512865.5:c.2078C>T	ENST00000512865.5:p.Ser693Leu
	ENST00000625323.2:c.2441C>T	ENST00000625323.2:p.Ser814Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

NR3C2

Type	Database	ID	Link
Gene	MIM	600983	OMIM
	HGNC	7979	HGNC
	Ensembl	ENSG00000151623	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM420178	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-07-07	no assertion criteria provided	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.031	Hypertensive disease	Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid recepto...	BeFree	20535141	Detail
0.143	Hypertensive disease	Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid recepto...	BeFree	20535141	Detail
0.031	Hypertensive disease	A gain-of-function mutation resulting in the S810L amino acid substitution in th...	BeFree	16419642	Detail
0.031	Hypertensive disease	The severe form of hypertension caused by the activating S810L mutation in the m...	BeFree	12538613	Detail
0.031	Hypertensive disease	Identification of steroid ligands able to inactivate the mineralocorticoid recep...	BeFree	15134816	Detail
0.360	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	Activating mineralocorticoid receptor mutation in hypertension exacerbated by pr...	UNIPROT	10884226	Detail
0.031	Hypertensive disease	Analysis of the S810L point mutation of the mineralocorticoid receptor in patien...	BeFree	15117605	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) AND Hypertension, early-onset, autosomal dominant, with e...	ClinVar	Detail
Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphi...	DisGeNET	Detail
Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphi...	DisGeNET	Detail
A gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding do...	DisGeNET	Detail
The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid rec...	DisGeNET	Detail
Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S8...	DisGeNET	Detail
Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.	DisGeNET	Detail
Analysis of the S810L point mutation of the mineralocorticoid receptor in patients with pregnancy-in...	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: rs41511344 dbSNP
Genome: hg19
Position: chr4:149,073,701-149,073,701
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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