RGD:8556019 Rat Genome Database

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Variant: RGD:8556019 -  Homo sapiens

RGD ID: 8556019
RS ID: rs104894067
ClinVar ID: CV16216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 143,958,637
GRCh38 8 142,877,221
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007954.1:g.7600A>C
NC_000008.11:g.142877221T>G
NC_000008.10:g.143958637T>G
NP_000488.3:p.Asn133His
More... 		07/01/2009 missense|missense variant pathogenic 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; 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:EXON

Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON

Variant Samples
Additional References at PubMed
PMID:9302260  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001236 CLINVAR
dbSNP (RS) rs104894067 CLINVAR
MedGen C0268292 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 202010 CLINVAR
  610613 CLINVAR
OMIM Allele 610613.0007 CLINVAR
SNOMED CT 124214007 CLINVAR