rs6402 Rat Genome Database

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Variant: rs6402 -  Homo sapiens

RGD ID: 11607566
RS ID: rs6402
ClinVar ID: CV304541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,960,978
GRCh38 8 142,879,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001026213.1:c.239+13C>A
NG_007954.1:g.5259C>A
NC_000008.11:g.142879562G>T
NC_000008.10:g.143960978G>T
More... 		12/03/2021 intron 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; AllHighlyPenetrant; 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_001026213
Location:INTRON

Gene Symbol:CYP11B1
Accession:NM_000497
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000287575 CLINVAR
  RCV000344850 CLINVAR
  RCV001289402 CLINVAR
  RCV001707684 CLINVAR
dbSNP (RS) rs6402 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
  C3838731 CLINVAR
  CN169374 CLINVAR
NCBI Gene CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR