RGD:13836171 Rat Genome Database

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Variant: RGD:13836171 -  Homo sapiens

RGD ID: 13836171
RS ID: rs587778797
ClinVar ID: CV439638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,674,491
GRCh38 2 218,809,768
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.33020G>T
NC_000002.12:g.218809768G>T
NC_000002.11:g.219674491G>T
NM_000784.4:c.446+1G>T
 03/26/2018 splice donor variant pathogenic 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:9392430   PMID:10775536   PMID:16199547   PMID:26937392   PMID:28492532   PMID:28590052  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000732194 CLINVAR
  RCV001386295 CLINVAR
dbSNP (RS) rs587778797 CLINVAR
MedGen C0238052 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR