RGD:152174006 Rat Genome Database

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Variant: RGD:152174006 -  Homo sapiens

RGD ID: 152174006
RS ID: rs1384087182
ClinVar ID: CV1660194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 143,993,937
GRCh38 8 142,912,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000498.3:c.1398+9G>C
NG_008374.1:g.10323G>C
NG_046133.1:g.9164C>G
NC_000008.11:g.142912521C>G
More...
10/07/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163002 CLINVAR
dbSNP (RS) rs1384087182 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP11B2 CLINVAR
  LOC106799834 CLINVAR
OMIM 124080 CLINVAR