RGD:152089659 Rat Genome Database

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Variant: RGD:152089659 -  Homo sapiens

RGD ID: 152089659
RS ID: rs373607899
ClinVar ID: CV1654709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,159,776
GRCh38 12 57,765,993
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.386+14G>T
NC_000012.12:g.57765993C>A
NC_000012.11:g.58159776C>A
NG_007076.1:g.6201G>T
 12/04/2021 intron variant benign none provided; PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002212548 CLINVAR
  RCV002479878 CLINVAR
dbSNP (RS) rs373607899 CLINVAR
MedGen C3661900 CLINVAR
  CN283242 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 264700 CLINVAR
  609506 CLINVAR