RGD:38465398 Rat Genome Database

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Variant: RGD:38465398 -  Homo sapiens

RGD ID: 38465398
RS ID: rs6388
ClinVar ID: CV961818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,960,971
GRCh38 8 142,879,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001026213.1:c.239+20T>A
NG_007954.1:g.5266T>A
NM_000497.4:c.239+20T>A
NC_000008.10:g.143960971A>T
More... 		12/14/2021 intron variant benign 11-alpha beta-hydroxylase deficiency; 11-beta-hydroxylase deficiency; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Adrenal hyperplasia IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001250133 CLINVAR
  RCV001675986 CLINVAR
dbSNP (RS) rs6388 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP11B1 CLINVAR
OMIM 202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR