RGD:28910342 Rat Genome Database

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Variant: RGD:28910342 -  Homo sapiens

RGD ID: 28910342
RS ID: rs1312537684
ClinVar ID: CV899038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,954,843
GRCh38 8 142,873,427
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000497.4:c.*946G>A
NM_001026213.1:c.*946G>A
NG_007954.1:g.11394G>A
NC_000008.11:g.142873427C>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_001026213
Location:3UTRS;EXON

Gene Symbol:CYP11B1
Accession:NM_000497
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001161345 CLINVAR
  RCV001161346 CLINVAR
dbSNP (RS) rs1312537684 CLINVAR
MedGen C0268292 CLINVAR
  C3838731 CLINVAR
NCBI Gene CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR