RGD:127283383 Rat Genome Database

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Variant: RGD:127283383 -  Homo sapiens

RGD ID: 127283383
RS ID: rs1254465968
ClinVar ID: CV1096707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 143,996,111
GRCh38 8 142,914,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000498.3:c.799+10G>C
NG_046133.1:g.11338C>G
NG_008374.1:g.8149G>C
NC_000008.11:g.142914695C>G
More... 		09/10/2020 intron variant likely benign 18 alpha hydroxylase deficiency; 18 Hydroxylase deficiency; 18-OXIDASE DEFICIENCY; Aldosterone deficiency 1; Aldosterone deficiency due to defect in 18 hydroxylase; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE; ALDOSTERONE DEFICIENCY I; ALDOSTERONE DEFICIENCY II; CMO 1 deficiency; CMO I DEFICIENCY; CMO II DEFICIENCY; Corticosterone methyloxidase type 1 deficiency; Corticosterone methyloxidase type 2 deficiency; none provided; STEROID 18-HYDROXYLASE DEFICIENCY; STEROID 18-OXIDASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001448504 CLINVAR
  RCV002495634 CLINVAR
dbSNP (RS) rs1254465968 CLINVAR
MedGen C0268293 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP11B2 CLINVAR
  LOC106799834 CLINVAR
OMIM 124080 CLINVAR
  203400 CLINVAR
  610600 CLINVAR
SNOMED CT 47757001 CLINVAR