RGD:28903279 Rat Genome Database

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Variant: RGD:28903279 -  Homo sapiens

RGD ID: 28903279
RS ID: rs1812917346
ClinVar ID: CV893164
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR3C1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 142,659,988
GRCh38 5 143,280,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204261.2:c.*1466T>C
NM_001204262.2:c.*1466T>C
NM_001204263.2:c.*1466T>C
NM_001204264.2:c.*1466T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Cortisol resistance from glucocorticoid receptor defect; GCCR DEFICIENCY; Gcr deficiency; Glucocorticoid receptor deficiency; Glucocorticoid resistance, generalized
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NR3C1
Accession:NM_001364185
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018076
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204264
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001364184
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001364182
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018074
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001364183
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_000176
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204261
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204263
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204260
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018075
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001024094
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204258
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204262
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001204259
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001364181
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001364180
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018077
Location:3UTRS;EXON

Gene Symbol:NR3C1
Accession:NR_157096
Location:EXON;NON-CODING

Gene Symbol:NR3C1
Accession:NM_001020825
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204265
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001157489 CLINVAR
dbSNP (RS) rs1812917346 CLINVAR
MedGen C1841972 CLINVAR
NCBI Gene NR3C1 CLINVAR
OMIM 138040 CLINVAR
  615962 CLINVAR