RGD:13516904 Rat Genome Database

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Variant: RGD:13516904 -  Homo sapiens

RGD ID: 13516904
RS ID: rs370304209
ClinVar ID: CV492582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,677,824
GRCh38 2 218,813,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000784.4:c.1017+5G>A
NM_000784.3:c.1017+5G>A
NC_000002.12:g.218813101G>A
NG_007959.1:g.36353G>A
More... 		03/02/2018 intron variant 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:9536098   PMID:17576681   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000712495 CLINVAR
  RCV001138168 CLINVAR
dbSNP (RS) rs370304209 CLINVAR
MedGen C0238052 CLINVAR
  CN517202 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR