RGD:402511639 Rat Genome Database

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Variant: RGD:402511639 -  Homo sapiens

RGD ID: 402511639
ClinVar ID: CV2858755
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,157,057
GRCh38 12 57,763,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000785.4:c.1414-19C>G
NG_007076.1:g.8920C>G
NC_000012.12:g.57763274G>C
NC_000012.11:g.58157057G>C
 12/01/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP27B1
Accession:NM_000785
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003546986 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 609506 CLINVAR