RGD:11621199 Rat Genome Database

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Variant: RGD:11621199 -  Homo sapiens

RGD ID: 11621199
RS ID: rs146281435
ClinVar ID: CV333936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,160,846
GRCh38 12 57,767,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000785.3:c.-22C>G
NG_007076.1:g.5131C>G
NC_000012.12:g.57767063G>C
NC_000012.11:g.58160846G>C
More... 		06/14/2016 5 prime utr variant uncertain significance VITAMIN D DEPENDENCY, TYPE 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27B1
Accession:NM_000785
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000345491 CLINVAR
dbSNP (RS) rs146281435 CLINVAR
MedGen C0268689 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 264700 CLINVAR
  609506 CLINVAR
SNOMED CT 67049004 CLINVAR