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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2000-07-07 | no assertion criteria provided | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy |
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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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