NM_001018077.1(NR3C1):c.1088A>G (p.Asn363Ser)

NM_001018077.1(NR3C1):c.1088A>G (p.Asn363Ser)

Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
  • Chr5:143399752 (on Assembly GRCh38)
  • Chr5:142779317 (on Assembly GRCh37)
Protein change:
N363S
HGVS:
  • NG_009062.1:g.40761A>G
  • NM_001018077.1:c.1088A>G
  • NC_000005.10:g.143399752T>C (GRCh38)
  • NP_001018087.1:p.Asn363Ser
  • NC_000005.9:g.142779317T>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs386601909
Molecular consequence:
NM_001018077.1:c.1088A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.02199 (C)
  • GMAF 0.00620 (C)

Clinical significance

NM_001018077.1(NR3C1):c.1088A>G (p.Asn363Ser)

Clinical significance:
Benign
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
  • GLUCOCORTICOID RECEPTOR POLYMORPHISM
See supporting ClinVar records

1 Affected gene

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Benign
(Aug 27, 2013)
no assertion criteria providedliterature only
  • GLUCOCORTICOID RECEPTOR POLYMORPHISM
germlinePubMed (7)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000037804
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedGLUCOCORTICOID RECEPTOR POLYMORPHISM (not provided)not providednot providedPubMedDobson et al. (2001) investigated the association between the 363S allele and risk factors for coronary heart disease and diabetes mellitus in a popul…Full description

Last Updated: Jun 27, 2015