rs199891090 Rat Genome Database

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Variant: rs199891090 -  Homo sapiens

RGD ID: 10049358
RS ID: rs199891090
ClinVar ID: CV190289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,646,900
GRCh38 2 218,782,177
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.5429C>T
NC_000002.12:g.218782177C>T
NC_000002.11:g.219646900C>T
NM_000784.4:c.-6C>T
More... 		02/07/2020 5 prime utr variant benign|uncertain significance infancy 1-9 / 100 000 AllHighlyPenetrant; 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000173170 CLINVAR
  RCV000294686 CLINVAR
  RCV001682882 CLINVAR
dbSNP (RS) rs199891090 CLINVAR
MedGen C0238052 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR