RGD:11603790 Rat Genome Database

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Variant: RGD:11603790 -  Homo sapiens

RGD ID: 11603790
RS ID: rs5297
ClinVar ID: CV313283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 143,955,657
GRCh38 8 142,874,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007954.1:g.10580T>C
NC_000008.11:g.142874241A>G
NC_000008.10:g.143955657A>G
NM_000497.4:c.*132T>C
More... 		05/11/2021 3 prime utr variant benign adolescent 11-alpha beta-hydroxylase deficiency; 11-beta-hydroxylase deficiency; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Adrenal hyperplasia IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I; none provided; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_000497
Location:3UTRS;EXON

Gene Symbol:CYP11B1
Accession:NM_001026213
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000303302 CLINVAR
  RCV000398771 CLINVAR
  RCV001653733 CLINVAR
dbSNP (RS) rs5297 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
  C3838731 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR