RGD:156351427 Rat Genome Database

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Variant: RGD:156351427 -  Homo sapiens

RGD ID: 156351427
ClinVar ID: CV1978439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,679,182
GRCh38 2 218,814,459
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.1263+1G>T
NG_007959.1:g.37711G>T
NC_000002.12:g.218814459G>T
NC_000002.11:g.219679182G>T
 12/28/2023 splice donor variant pathogenic Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis; CTX: Cerebrotendinous xanthomatosis
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:8827518   PMID:26622071   PMID:27878435   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002601855 CLINVAR
MedGen C0238052 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR