RGD:38498579 Rat Genome Database

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Variant: RGD:38498579 -  Homo sapiens

RGD ID: 38498579
RS ID: rs772960103
ClinVar ID: CV960051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,159,982
GRCh38 12 57,766,199
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.196-2A>G
NG_007076.1:g.5995A>G
NC_000012.12:g.57766199T>C
NC_000012.11:g.58159982T>C
More... 		11/15/2019 splice acceptor variant likely pathogenic none provided

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

Variant Samples
Additional References at PubMed
PMID:9837822   PMID:16199547   PMID:17488797   PMID:28492532   PMID:36321535  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001227842 CLINVAR
dbSNP (RS) rs772960103 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 609506 CLINVAR