RGD:127312152 Rat Genome Database

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Variant: RGD:127312152 -  Homo sapiens

RGD ID: 127312152
RS ID: rs2130331261
ClinVar ID: CV1118236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,996,667
GRCh38 8 142,915,251
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.396-6C>T
NG_046133.1:g.11894G>A
NG_008374.1:g.7593C>T
NC_000008.11:g.142915251G>A
More... 		10/20/2020 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 RCV001464302 CLINVAR
dbSNP (RS) rs2130331261 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP11B2 CLINVAR
  LOC106799834 CLINVAR
OMIM 124080 CLINVAR