rs587778779 Rat Genome Database

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Variant: rs587778779 -  Homo sapiens

RGD ID: 8573389
RS ID: rs587778779
ClinVar ID: CV76743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,679,102
GRCh38 2 218,814,379
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.37631G>T
NC_000002.12:g.218814379G>T
NC_000002.11:g.219679102G>T
NM_000784.4:c.1185-1G>T
More... 		12/30/2023 splice acceptor variant pathogenic neonatal/infancy 1-9 / 100 000 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:9392430   PMID:10775536   PMID:14741198   PMID:16199547   PMID:25741868   PMID:25983621   PMID:26937392   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056075 CLINVAR
dbSNP (RS) rs587778779 CLINVAR
MedGen C0238052 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR