RGD:11583186 Rat Genome Database

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Variant: RGD:11583186 -  Homo sapiens

RGD ID: 11583186
RS ID: rs182545847
ClinVar ID: CV284710
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 219,646,536
GRCh38 2 218,781,813
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007959.1:g.5065T>C
NC_000002.12:g.218781813T>C
NC_000002.11:g.219646536T>C
NM_000784.3:c.-370T>C
 06/14/2016 5 prime utr variant uncertain significance infancy 1-9 / 100 000 Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis; CTX: Cerebrotendinous xanthomatosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265006 CLINVAR
dbSNP (RS) rs182545847 CLINVAR
MedGen C0238052 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR