RGD:10051473 Rat Genome Database

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Variant: RGD:10051473 -  Homo sapiens

RGD ID: 10051473
RS ID: rs191313794
ClinVar ID: CV193449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,677,148
GRCh38 2 218,812,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007959.1:g.35677C>T
NC_000002.12:g.218812425C>T
NC_000002.11:g.219677148C>T
NM_000784.4:c.646+4C>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis; CTX: Cerebrotendinous xanthomatosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27A1
Accession:NM_000784
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000177089 CLINVAR
  RCV001082198 CLINVAR
  RCV003965279 CLINVAR
dbSNP (RS) rs191313794 CLINVAR
MedGen C0238052 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR