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

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

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
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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

DescrptionSourceLinks
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
Genome browser